O fechamento precoce dos ossos da cabeça, que faz parte de uma síndrome maior.
Introdução
O que você precisa saber de cara
O fechamento precoce dos ossos da cabeça, que faz parte de uma síndrome maior.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 352 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 877 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
27 genes identificados com associação a esta condição.
As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis and ciliary protein trafficking (PubMed:21473986, PubMed:28400947, PubMed:29220510). May promote CASP3 activation and TNF-stimulated apoptosis
Cytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, cilium axonemeCytoplasm, cytoskeleton, cilium basal body
Cranioectodermal dysplasia 2
A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. Teeth abnormalities include widely spaced, hypoplastic and fused teeth.
This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5
Endoplasmic reticulum membrane
Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis
A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures.
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activati
Cell membraneNucleusCytoplasm, cytosolCytoplasmic vesicle
Pfeiffer syndrome
A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).
Acts as a negative regulator of hedgehog signaling
Membrane
Carpenter syndrome 2
An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease.
Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia (PubMed:27466190). Required for the anterograde transport of IFT88 (PubMed:27466190)
Cell projection, cilium
Short-rib thoracic dysplasia 16 with or without polydactyly
A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
Receptor for interleukin-11 (IL11). The receptor systems for IL6, LIF, OSM, CNTF, IL11 and CT1 can utilize IL6ST for initiating signal transmission. The IL11/IL11RA/IL6ST complex may be involved in the control of proliferation and/or differentiation of skeletogenic progenitor or other mesenchymal cells (Probable). Essential for the normal development of craniofacial bones and teeth. Restricts suture fusion and tooth number Soluble form of IL11 receptor (sIL11RA) that acts as an agonist of IL11 a
MembraneSecreted
Craniosynostosis and dental anomalies
A disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly.
Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter
Nucleus
Parietal foramina 1
Autosomal dominant disease characterized by oval defects of the parietal bones caused by deficient ossification around the parietal notch, which is normally obliterated during the fifth fetal month.
Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:15062093, PubMed:1860873). Fibrillin-1-containing microfibrils provide long-term force bearing structural support (PubMed:27026396). In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin (PubMed:27026396). In
SecretedSecreted, extracellular space, extracellular matrix
Marfan syndrome
A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.
Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity)
Nucleus
Craniosynostosis 4
A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals (PubMed:10823918, PubMed:22020119). RAs exist as at least four different isomers: all-trans-RA (atRA), 9-cis-RA, 13-cis-RA, and 9,13-dicis-RA, where atRA is considered to be the biologically active isomer, although 9-cis-RA and 13-cis-RA also have activity (Probable). Catalyzes the hydroxylation of atRA primarily at C-4 and C-18, thereby
Endoplasmic reticulum membraneMicrosome membrane
Radiohumeral fusions with other skeletal and craniofacial anomalies
A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects.
Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins (PubMed:11336703, PubMed:11448771, PubMed:11719191, PubMed:15778503, PubMed:15908424, PubMed:16252235). Activates the canonical Wnt signaling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration (PubMed:11336703, PubMed:11719191). In particular, may play an important role in the development of t
MembraneEndoplasmic reticulum
Vitreoretinopathy, exudative 1
An autosomal dominant disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history.
Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs) (PubMed:20889716, PubMed:22503633). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance (PubMed:22503633). Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to
Cytoplasm, cytoskeleton, cilium basal bodyCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCell projection, cilium
Short-rib thoracic dysplasia 9 with or without polydactyly
A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis.
The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different set of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. In conjunction with IFT57 and KIF17, it drives the localization of specific G protein-coupled receptors, such as the dopa
Cell membraneCytoplasmCytoplasmic vesicle, autophagosomeEndosome membraneCytoplasmic vesicle, phagosomeCytoplasmic vesicle, phagosome membrane
Carpenter syndrome 1
A rare autosomal recessive disorder characterized by acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; intellectual disability; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed.
May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. May function at a time after T and NK cells have penetrated the endothelium using integrins and selectins, when they are actively engaging diseased cells and moving within areas of inflammation
Membrane
C syndrome
A syndrome characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears.
Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro) (PubMed:11742995, PubMed:11965546). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity (PubMed:11965546). May act as a transcriptional coactivator for RUNX1 and RUNX2 (PubMed:12771199). Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML (PubMed:23431171). May play a role in leukemogenic gene transcription
NucleusNucleus, nucleolusNucleus, nucleoplasmNucleus, PML body
As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or assembly (PubMed:20889716). Essential for functional IFT-A assembly and ciliary entry of GPCRs (PubMed:20889716). Associates with the BBSome complex to mediate ciliary transport (By similarity)
Cell projection, ciliumCytoplasm, cytoskeleton, cilium basal bodyCell projection, cilium, photoreceptor outer segmentCell projection, cilium, flagellum
Cranioectodermal dysplasia 4
A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described.
Transcriptional regulator. Involved in the initiation of neuronal differentiation. Activates transcription by binding to the E box (5'-CANNTG-3') (By similarity). May be involved in the functional network that regulates the development of the GnRH axis (PubMed:32620954)
Nucleus
Craniosynostosis 3
A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.
As a component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is required in ciliogenesis and ciliary protein trafficking (PubMed:27932497, PubMed:29220510). Involved in cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling. Required to recruit TULP3 to primary cilia (By similarity)
Cell projection, ciliumCytoplasm, cytoskeleton, cilium basal body
Cranioectodermal dysplasia 1
A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis), scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails.
May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling
Nucleus
Shprintzen-Goldberg craniosynostosis syndrome
A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, intellectual disability, developmental delay and learning disabilities.
As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis (PubMed:28400947, PubMed:28973684). Involved in retrograde ciliary transport along microtubules from the ciliary tip to the base (PubMed:21378380)
Cytoplasm, cytoskeletonCell projection, cilium
Cranioectodermal dysplasia 3
A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described.
Acts as a transcriptional regulator. Inhibits myogenesis by sequestrating E proteins, inhibiting trans-activation by MEF2, and inhibiting DNA-binding by MYOD1 through physical interaction. This interaction probably involves the basic domains of both proteins. Also represses expression of pro-inflammatory cytokines such as TNFA and IL1B. Regulates cranial suture patterning and fusion. Activates transcription as a heterodimer with E proteins. Regulates gene expression differentially, depending on
Nucleus
Saethre-Chotzen syndrome
A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly.
Flavoenzyme which catalyzes the oxidation of spermine to spermidine. Can also use N(1)-acetylspermine and spermidine as substrates, with different affinity depending on the isoform (isozyme) and on the experimental conditions. Plays an important role in the regulation of polyamine intracellular concentration and has the potential to act as a determinant of cellular sensitivity to the antitumor polyamine analogs. May contribute to beta-alanine production via aldehyde dehydrogenase conversion of 3
CytoplasmNucleus
An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction (PubMed:28653661). Does not unwind more than 18 bp of dsDNA (PubMed:28653661). May modulate chromosome segregation. The N-terminal domain (residues 1-54) binds DNA Y-shaped DNA better than ss- or dsDNA (PubMed:22730300). The core helicase domain binds ssDNA (PubMed:22730300, PubMed:28653661)
CytoplasmNucleus
RAPADILINO syndrome
Disease characterized by radial and patellar aplasia or hypoplasia.
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation, migration and apoptosis, and in the regulation of embryonic development. Required for normal embryonic patterning, trophoblast function, limb bud development, lung morphogenesis, osteogenesis and skin development. Plays an essential role in the regulation of osteoblast differentiation, proliferation and apoptosis, and is
Cell membraneGolgi apparatusCytoplasmic vesicleSecreted
Crouzon syndrome
An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.
Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferat
Cell membraneCytoplasmic vesicleEndoplasmic reticulumSecreted
Achondroplasia
A frequent form of short-limb dwarfism. It is characterized by a long, narrow trunk, short extremities, particularly in the proximal (rhizomelic) segments, a large head with frontal bossing, hypoplasia of the midface and a trident configuration of the hands. ACH is an autosomal dominant disease.
Zinc finger nuclear factor involved in transcription by regulating chromatin structure and organization (PubMed:20219459, PubMed:21570965). Involved in the pluripotency and differentiation of embryonic stem cells by regulating SOX2, POU5F1/OCT4, and NANOG (PubMed:21570965). By binding PBX1, prevents the heterodimerization of PBX1 and HOXA9 and their binding to DNA (By similarity). Regulates neuronal development and neural cell differentiation (PubMed:21570965)
Nucleus
Weiss-Kruszka syndrome
An autosomal dominant, multiple congenital anomaly syndrome with variable expressivity and complete penetrance. Patients manifest developmental delay, hypotonia, feeding difficulties, craniofacial abnormalities including ptosis, abnormal head shape, downslanting palpebral fissures, metopic ridging, and craniosynostosis. Variable congenital heart defects can be observed in some patients. A few patients show agenesis of the corpus callosum on brain imaging.
Medicamentos e terapias
Mecanismo: Prostanoid IP receptor agonist
Mecanismo: HMG-CoA reductase inhibitor
Mecanismo: Type-1 angiotensin II receptor antagonist
Mecanismo: B-lymphocyte antigen CD20 binding agent
Variantes genéticas (ClinVar)
828 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 6 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
86 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Craniossinostose sindrômica
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Publicações mais relevantes
Daily executive function in children and adolescents with non-syndromic craniosynostosis: association with timing of surgical intervention.
This study aimed to assess executive functioning in everyday activities of participants with non-syndromic craniosynostosis, to compare their performance with a control group, to assess the relationship between the timing of surgery and executive functioning, and to determine the proportion of participants scoring in the clinical range for executive functions. Twenty-nine participants with craniosynostosis and 30 controls were assessed with the parent version of the Behavior Rating Inventory of Executive Function 2 (BRIEF-2). Both groups scored similarly. However, the older the participant with craniosynostosis at the time of the surgery, the greater their difficulties in Task Initiation, Working Memory, Planning, and Monitoring. Only a small percentage (0-17%) of participants with craniosynostosis scored in the clinically significant range; this proportion was similar to that of the control group. This study did not find substantial difficulties in executive functions in daily activities in participants with non-syndromic craniosynostosis, but it did find an association between late surgery and lower scores in some cold executive functions. The study suggests that early surgical intervention could have a potential neurodevelopmental benefit for children and adolescents with craniosynostosis.
En-bloc posterior vault distraction including the foramen magnum for Chiari I malformation in severe syndromic craniosynostosis: First cases and literature review.
This case series describes two patients with severe Crouzon syndrome and persistent Chiari I malformation. Initial treatment with standard posterior vault distraction osteogenesis and frontoorbital advancement failed to resolve the patient's symptoms. One patient developed severe syringomyelia and myelopathy refractory even to standard suboccipital decompression. Given the persistent posterior fossa constriction, an en-bloc posterior vault distraction incorporating the foramen magnum was performed over 21 days, achieving an expansion of 20 mm. This approach resulted in complete symptom resolution in both patients, disappearance of syringomyelia, and normalization of posterior fossa anatomy. One procedure was guided by intraoperative cone-beam CT (Brainlab Loop-X) to optimize the distraction vector and ensure optimal ventricular catheter placement during the concomitant shunt revision. These are the first reported cases of en-bloc posterior vault distractions incorporating the foramen magnum to simultaneously address both posterior cranial restriction and secondary Chiari I malformation. They proof the feasibility of a mono-bloc technique to simultaneously distract the posterior cranial vault and the posterior fossa down to the foramen magnum.
Ophthalmic Pathologies in Craniosynostosis: Risk Factors and Disparities in the United States.
Known ophthalmic manifestations of craniosynostosis include strabismus, papilledema, refractive errors, and amblyopia. This study uses a national database to identify risk factors and disparities in the presentation of these ocular manifestations of craniosynostosis in the last decade. Hospital discharges with diagnoses of craniosynostosis were identified in the 2016 to 2022 National Inpatient Sample. Admissions were additionally characterized by concurrent ophthalmic pathologies, as well as sociodemographic and clinical variables. A multivariable logistic regression model was used to evaluate independent predictors of comorbid ophthalmic pathology (P<0.05). The final cohort included 39,385 discharges with craniosynostosis diagnoses from 2016 to 2022. The overall rate of ocular pathologies was 7.7%. The most common pathologies were disorders of the orbit (2.1%) and strabismus (2.0%). Syndromic craniosynostosis (OR: 2.06, 95% CI: 1.90-2.24, P<0.001) predicted higher odds of concurrent ophthalmic pathologies. Black (OR: 1.30, 95% CI: 1.15-1.47, P<0.001) and Hispanic (OR: 1.23, 95% CI: 1.11-1.35, P<0.001) race/ethnicity predicted higher odds of ophthalmic pathologies, whereas private insurance (OR: 0.85, 95% CI: 0.78-0.92, P<0.001) predicted lower odds. Comorbid ophthalmic pathologies in patients with craniosynostosis may be common. Historically underserved populations, such as Black and Hispanic patients and publicly insured patients, may experience a disproportionate epidemiological and clinical burden from these comorbid conditions. Such findings emphasize the need for multidisciplinary partnership and early ophthalmology referral for both syndromic and nonsyndromic craniosynostosis patients.
Morphological analysis of posterior fossa in Apert and Crouzon syndromes before and after posterior cranial vault expansion.
Syndromic craniosynostosis, such as Apert and Crouzon syndromes, involve premature fusion of cranial sutures, leading to cranial deformities and potential neurological complications. Posterior cranial vault expansion (PCVE) is commonly used to address intracranial volume (ICV) anomalies in these cases, especially in the posterior fossa region. However, the morphological variation of this region between normal, Apert and Crouzon individuals remains understudied. This study aimed to carry out a detailed morphological analysis of the posterior fossa between the aforementioned groups before and after PCVE. Retrospective computed tomography (CT) data from 28 children with Apert (n = 13) and Crouzon (n = 15) syndromes, alongside 51 age-matched controls, were analyzed. Intracranial and posterior fossa volumes (ICV and PFV) were computed pre- and post-operatively. Morphometric shape analyses were conducted for posterior fossa and intracranial cavity using principal component analysis (PCA). Pre-operatively, Apert syndrome patients exhibited larger PFV and ICV compared to Crouzon syndrome patients and controls (e.g., p = 0.009 for pre-operative Apert vs. controls), while Crouzon syndrome patients showed more variability in PFV and ICV. Post-operatively, Apert patients demonstrated significant increases in both PFV and PFV/ICV ratios (e.g., post-operative vs. pre-operative PFV: p < 0.001). In contrast, Crouzon patients exhibited limited improvements in PFV, with PFV/ICV ratios often declining post-surgery (p = 0.890; median post-operative-pre-operative difference = -0.095). PCA revealed distinct intracranial and posterior fossa shape differences between Apert and Crouzon patients. While PCVE increased posterior fossa volume, it did not appear to improve posterior fossa shape in either Apert or Crouzon patients. Future studies are required to address the limitations of small sample sizes, lack of post-operative data on Chiari anomaly, and surgical variability to further explore possible correlations between the aforementioned parameters.
Feasibility and reproducibility of handheld and table-mounted optical coherence tomography in children with craniosynostosis.
Optical coherence tomography (OCT) can be a valuable tool for non-invasively monitoring the optic nerve status in children with craniosynostosis. However, it is currently unknown whether optic nerve parameters derived from handheld OCT are comparable to those derived from table-mounted OCT, which is more widely used. This study aims to assess the feasibility and reproducibility of handheld and table-mounted OCT in craniosynostosis. This was a cross-sectional study conducted at Great Ormond Street Hospital (GOSH), London. Twenty children aged 4-18 years with a clinical/genetic diagnosis of craniosynostosis were included. Bilateral optic nerve head OCT imaging was performed using the Spectralis (Heidelberg Engineering), followed by the handheld Envisu C2300 (Leica Microsystems). Primary outcome measures were quantitative cup, disc, rim and peripapillary parameters. Intraclass correlation coefficients (ICC) and coefficient of variation (CoV) were calculated for each quantitative OCT parameter. 20 children (100%) were successfully recruited. Median age at the time of OCT examination was 6 years (range: 4-16; IQR: 5-8). Ten participants (50%) were female. Seven participants (35%) had syndromic craniosynostosis and 13 participants (65%) had non-syndromic craniosynostosis. Bilateral imaging success was 100% for both machines. ICCs were good-to-excellent for all parameters, ranging from 0.81 to 1.00. The coefficient of variation was low for all parameters. OCT imaging of the optic nerve is feasible in school-aged children with craniosynostosis and comparable between the Spectralis and handheld Envisu OCT. This could allow comparison and pooling of data between the two machines, greatly enhancing patient care and future research.
Publicações recentes
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Surgical Outcomes of Cranial Vault Expansion Following Treatment of Craniosynostosis in Complex Syndromes: A Retrospective-Prospective Patient Series.
Predictors of Epilepsy in Syndromic Craniosynostosis.
Digital Planning and Patient-Specific Implants Facilitate Accurate Conventional Sub-Cranial Le Fort III Advancement.
Daily executive function in children and adolescents with non-syndromic craniosynostosis: association with timing of surgical intervention.
📚 EuropePMC377 artigos no totalmostrando 198
Daily executive function in children and adolescents with non-syndromic craniosynostosis: association with timing of surgical intervention.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEn-bloc posterior vault distraction including the foramen magnum for Chiari I malformation in severe syndromic craniosynostosis: First cases and literature review.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryOphthalmic Pathologies in Craniosynostosis: Risk Factors and Disparities in the United States.
The Journal of craniofacial surgeryMorphological analysis of posterior fossa in Apert and Crouzon syndromes before and after posterior cranial vault expansion.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryFeasibility and reproducibility of handheld and table-mounted optical coherence tomography in children with craniosynostosis.
Eye (London, England)Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
International journal of pediatric otorhinolaryngologyCurrent Management of Craniosynostosis: A Nordic Pediatric Neurosurgery Network Study.
The Journal of craniofacial surgerySagittal Craniosynostosis Associated With Chromosome 16p13.3 Duplication.
The Journal of craniofacial surgeryConcurrent posterior vault expansion and extradural Chiari decompression in syndromic and non-syndromic craniosynostosis: a case series.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryLong-term morphometric and functional outcomes of frontofacial advancement in syndromic craniosynostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPosterior Cranial Decompression in ERF-Mutated Multisuture Craniosynostosis.
The Journal of craniofacial surgeryExamining Sociodemographic Disparities in Diagnostic Delays and Surgical Management of Non-Syndromic Craniosynostosis: A 10-Year Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationBlended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes.
Molecular syndromologyP38α MAPK-induced senescence in cranial suture progenitor cells promotes craniosynostosis.
Communications biologyMidface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model.
Journal of visualized experiments : JoVESecondary Coronal Synostosis After Posterior Vault Distraction Osteogenesis.
The Journal of craniofacial surgeryDifference in anterior fontanelle closure between non-syndromic craniosynostosis and normal controls: a retrospective cross-sectional study.
Italian journal of pediatricsEarly posterior cranial vault distraction in syndromic craniosynostosis: orbital and ocular changes.
International journal of oral and maxillofacial surgery[Dynamics of caudal dystopia of cerebellar tonsils in patients with craniosynostosis following posterior cranial distraction].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoManagement of upper airway obstruction in syndromic craniosynostosis: A lifespan approach from childhood to adulthood.
Archives de pediatrie : organe officiel de la Societe francaise de pediatriePosterior Vault Distraction Osteogenesis: A Systematic Review and Single-Arm Metanalysis.
The Journal of craniofacial surgeryAre There Morphophysiological Airway Alterations in Syndromic Craniosynostosis? A 3D Computed Tomography and CFD Analysis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationPractical Use of Mixed Reality for Transfacial Pinning in Monobloc Advancement for Syndromic Craniosynostosis.
The Journal of craniofacial surgeryGeneration of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis.
Disease models & mechanismsLeFort III distraction in patients with syndromic craniosynostosis: Is overcorrection beneficial?
Journal of plastic, reconstructive & aesthetic surgery : JPRASPeripapillary Hyperreflective Ovoid Mass-like Structures before and after Intracranial Decompression: A Longitudinal Cohort Study.
OphthalmologySyndromic vs Nonsyndromic Management of Multisuture Craniosynostosis: A Single-Center Experience.
Operative neurosurgery (Hagerstown, Md.)Highlighting posterior cranial vault expansion remodeling for treating various types of craniosynostosis in children.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryLong-term neurocognitive and behavioral outcomes in patients with non-syndromic craniosynostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEnhancing Predictive Tools for Skeletal Growth and Craniofacial Morphology in Syndromic Craniosynostosis: A Focus on Cranial Base Variables.
Diagnostics (Basel, Switzerland)Differential impact of Crouzon and Apert syndromes on upper airways morphology: implications for Obstructive Sleep Apnoea.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryThe influence of closed sutures on cranial morphology in Apert and Crouzon syndromes: A quantitative analysis.
Journal of anatomyEye Tracking Technology as an Adjunct in Medical Education: Our Experience at the National Paediatric Craniofacial Centre in Ireland.
The Journal of craniofacial surgeryAssociation of Preoperative Nutritional Status With Outcomes in Fronto-Orbital Advancement for Syndromic Craniosynostosis.
Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial SurgeonsFacial asymmetry in syndromic craniosynostosis patients undergoing midface surgery compared to a large general population.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgerySyndromic Craniosynostosis: The Hidden Burden of Comorbidities on Surgical Outcomes.
Annals of plastic surgeryA Rare Case of Prenatally Diagnosed Pfeiffer Syndrome with Multicystic Kidney.
Journal of obstetrics and gynaecology of IndiaCraniosynostosis: Experience From a Single Tertiary Center in India.
CureusFurther Evidence of Early-Onset Osteoporosis and Bone Fractures as a New FGFR2-Related Phenotype.
International journal of molecular sciencesFathoming the scientific paradox of intangibles: protocol reappraisal for optimizing cognitive outcomes in faciocraniosynostosis-an institutional experience.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryPsychosocial Support for Australian Families Impacted by Craniosynostosis: A Qualitative Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationThree-dimensional assessment of outcomes of surgical midface advancement in syndromic craniosynostosis: A systematic review.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryChaos to Flow: Categorization, Nomenclature to Problem Mapping: Unified Interdisciplinary Language in Craniosynostoses.
The Journal of craniofacial surgeryReversible abducens nerve palsy following cranial vault expansion in the setting of multisutural craniosynostosis: illustrative case.
Journal of neurosurgery. Case lessonsCurrent Understanding of Crouzon Syndrome Pathophysiology and New Therapeutic Approaches.
The Journal of craniofacial surgeryTargeting of C-ROS-1 Activity Using a Controlled Release Carrier to Treat Craniosynostosis in a Preclinical Model of Saethre-Chotzen Syndrome.
Journal of tissue engineering and regenerative medicineSkull Base and Craniocervical Anomalies in Syndromic Craniosynostosis.
NeurosurgeryNon-syndromic craniosynostosis.
Nature reviews. Disease primersUpper Airway Obstruction Trends in Craniofacial Syndromes: A Comparative Study.
The Journal of craniofacial surgeryDetermining the cause of optic nerve atrophy in syndromic craniosynostosis using logistic regression.
International ophthalmologyOverlap of genetic factors among craniosynostosis and autism spectrum disorder: the presence of autistic cases without craniosynostosis in carriers of shared variants.
Journal of neurosurgery. PediatricsClinical Nasal Deviation Following Midface Advancement in Patients With Syndromic Craniosynostosis.
The Journal of craniofacial surgeryCraniosynostosis and Chiari I Malformation Managed With Middle 1/3 Calvarial Vault Expansion.
The Journal of craniofacial surgeryThe Efficacy of Postoperative Helmet Therapy After Open Cranial Vault Remodeling for Nonsyndromic Craniosynostosis.
The Journal of craniofacial surgeryNovel digital measurement system for predicting surgical outcomes in patients with primary non-syndromic craniosynostosis.
Journal of oral biology and craniofacial researchThe cranial base and midface characteristics in apert and Crouzon syndrome: A 3-dimensional analysis of morphological variations.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryDiscussion: Long-Term Orbito-Ocular Outcomes following Le Fort III and Monobloc Distraction Osteogenesis in Patients with Syndromic Craniosynostosis.
Plastic and reconstructive surgeryMoving beyond surgical excellence: a qualitative systematic review into the perspectives and experiences of children, adolescents, and adults living with a rare congenital craniofacial condition and their parents.
Journal of plastic surgery and hand surgeryPerioperative Airway Management for Midface Surgery in Children With Syndromic Craniosynostosis; a Single Center Experience With Immediate Extubation.
Paediatric anaesthesiaPrevalence and treatment outcomes of hydrocephalus among children with craniofacial syndromes.
Journal of plastic surgery and hand surgeryOrthognathic surgery in syndromic craniosynostosis: Incorporating midface morphometric analysis and dental parameters in surgical planning.
Current problems in surgeryImpact of Lefort III/ monobloc advancement on midface growth in children with syndromic craniosynostosis: A systematic review.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryFactors influencing blood loss in fronto-orbital advancement and remodeling: A retrospective review of 231 cases.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryPrevalence and Clinical Associations of Peripapillary Hyperreflective Ovoid Mass-like Structures in Craniosynostosis.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyA Preliminary Study of Hearing Loss in Children With Craniosynostosis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationUtility of Papilledema for Detection of Elevated Intracranial Pressure in Craniosynostosis.
The Journal of craniofacial surgerySuccess of Bone Ossification After Posterior Vault Distraction Osteogenesis in Patients With Craniosynostosis.
The Journal of craniofacial surgerySimultaneous Lefort 2 Distraction and Fronto-Orbito-Malar Advancement: Correcting Severe Upper and Midface Retrusion in a Patient With Crouzon Syndrome.
The Journal of craniofacial surgeryPrenatal Diagnosis of Nonsyndromic Craniosynostosis: A Scoping Review.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationIntraoperative Skull Fracture During Halo Application in Subcranial Le Fort III: Strategies for Managing a Rare Complication.
The Journal of craniofacial surgeryCerebral Cortical Changes in Craniosynostosis: A Systematic Review.
CureusTemporal bone thickness analysis in craniofacial anomalies: key considerations for bone conduction hearing implants.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryDiscussion: Thirty-Year Experience Treating Syndromic Craniosynostosis: Long-Term Outcomes following Cranial Expansions.
Plastic and reconstructive surgeryOpen versus endoscopic surgery with helmet molding therapy in non-syndromic patients with craniosynostosis: an updated systematic review and meta-analysis of clinical outcomes and treatment-related costs.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFactors Influencing Fronto-Orbital Relapse in Patients With Syndromic Craniosynostosis: A 2 Decade Review.
The Journal of craniofacial surgeryRisk of Reading Difficulties in School-age Children Treated for Non-syndromic Craniosynostosis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCraniosynostosis in Africa: Insights from 8 Countries-A Systematic Review and Meta-Analysis.
World neurosurgerySocial Perceptions of Preoperative and Postoperative Photographs of Patients With Syndromic Craniosynostosis Undergoing Le Fort III Advancement.
The Journal of craniofacial surgeryManagement of Midface Deficiency in Syndromic Craniosynostosis with Lefort III Distraction Osteogenesis, Outcomes, and Pitfalls.
Journal of maxillofacial and oral surgeryBilevel positive airway pressure treatment of sleep apnea syndrome in a patient with Crouzon syndrome.
Sleep & breathing = Schlaf & AtmungComparison of syndromic and non-syndromic craniosynostosis cases followed in a tertiary pediatric intensive care unit: a case control study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFree-floating bone flap posterior cranial vault release in syndromic craniosynostosis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryDiscussion: A European Multicenter Outcome Study of Perioperative Airway Management Policies following Midface Surgery in Syndromic Craniosynostosis.
Plastic and reconstructive surgeryInformation Needs of Australian Families Living with Craniosynostosis: A Qualitative Study.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationInfluence of Bone Defects After Endoscope-Assisted Suturectomy on Monobloc Advancement in Syndromic Bilateral Coronal Craniosynostosis Patients.
The Journal of craniofacial surgeryA study of the cerebral venous drainage patterns in craniosynostosis: nonsyndromic cases and the induction effect of Virchow's law on venous sinuses.
Journal of neurosurgery. PediatricsSoftware-assisted bone thickness evaluation in patients with syndromic craniosynostosis undergoing Le Fort III osteotomy: a technical note.
International journal of oral and maxillofacial surgeryConfronting Craniosynostosis: Maternal Concerns, Challenges, and Coping for their Children.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationA cephalometric study on Le Fort Ⅲ osteotomy related anatomical features of anterior cranial base in syndromic craniosynostosis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgerySkeletal and Soft Tissue Surgeries in the Long-term Management of Patients With Syndromic Craniosynostosis: A 20-Year Review.
Annals of plastic surgeryReducing the risk of unfavourable fractures in Le Fort III osteotomy via a navigation-guided technique.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryA 3-Dimensional Morphometric Analysis of 4 Midsagittal Planes for CT Scan Reference Determination in Children with Syndromic Craniosynostosis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationOcular manifestations of craniosynostosis in Saudi Arabia.
Journal francais d'ophtalmologieClinical analysis of Le Fort III distraction for obstructive sleep apnea in pediatric patients with syndromic craniosynostosis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryTracheal Ultrasound for Diagnosis of Tracheal Cartilaginous Sleeve in Patients with Syndromic Craniosynostosis.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryUsing a Disentangled Neural Network to Objectively Assess the Outcomes of Midfacial Surgery in Syndromic Craniosynostosis.
Plastic and reconstructive surgeryDiscussion: Comparative Study of Internal Device versus External Device in Le Fort III Distraction for Syndromic Craniosynostosis.
Plastic and reconstructive surgeryAI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostoses.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryNew CRISPR/Cas9-based Fgfr2C361Y/+ mouse model of Crouzon syndrome exhibits skull and behavioral abnormalities.
Journal of molecular medicine (Berlin, Germany)Cranial bone microarchitecture in a mouse model for syndromic craniosynostosis.
Journal of anatomyThe role of pathogenic TCF12 variants in children with coronal craniosynostosis-a systematic review with addition of two novel cases.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryGenetic Heterogeneity, Craniofacial Surgical Burden, and Surgical Techniques in Patients With Saethre-Chotzen Syndrome.
The Journal of craniofacial surgeryExploring Different Management Modalities of Nonsyndromic Craniosynostosis.
CureusEarly posterior vault distraction osteogenesis changes the syndromic craniosynostosis treatment paradigm: long-term outcomes of a 23-year cohort study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA rare case report on imaging on severe form of syndromic craniosynostosis-oxycephaly.
QJM : monthly journal of the Association of PhysiciansLoss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
European journal of human genetics : EJHGNonsyndromic Craniosynostosis Correlation Between Ethnicity, Race, and Pattern of Affected Suture Type: Meta-Analysis.
The Journal of craniofacial surgeryAttention Deficit/Hyperactivity Disorder in Individuals with Non-Syndromic Craniosynostosis: A Systematic Review and Meta-Analysis.
Developmental neuropsychologyParental satisfaction with hospital care for children with non-syndromic craniosynostosis: A mixed-method study.
Journal of pediatric nursingNoonan syndrome-like phenotype associated with an ERF frameshift variant.
American journal of medical genetics. Part AThree-dimensional quantification of soft tissue changes and its relationship to skeletal changes after Le Fort III, monobloc, and facial bipartition in syndromic craniosynostosis.
International journal of oral and maxillofacial surgeryApert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgerySyndromic craniosynostosis caused by a novel missense variant in MAP4K4: Expanding the genotype-phenotype relationship in RASopathies.
Clinical geneticsSkeletal changes after midface surgery in patients with craniofacial deformities: a three-dimensional quantification method.
International journal of oral and maxillofacial surgeryThirty-Year Experience Treating Syndromic Craniosynostosis: Long-Term Outcomes following Cranial Expansions.
Plastic and reconstructive surgeryThe effect of Le Fort III procedure in the treatment of obstructive sleep apnea in children with syndromic craniosynostosis.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineHealth-Related Quality of Life in Mexican Children and Adolescents with Non-Syndromic Craniosynostosis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationIn Vitro Assessment of the Neuro-Compatibility of Fe-20Mn as a Potential Bioresorbable Material for Craniofacial Surgery.
Medicina (Kaunas, Lithuania)Skeletal expansion via craniofacial distraction osteogenesis technique in syndromic craniosynostosis: impact on ophthalmic parameters.
International ophthalmologyNeurocognitive outcomes and associated clinical factors 5 years after surgery in children with craniosynostosis.
Journal of neurosurgery. PediatricsSevere obstructive sleep apnea in children with syndromic craniosynostosis: analysis of pulse transit time.
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep MedicineDevelopment of Calvarial Bone Osteomyelitis in a Noonan Syndrome Patient Following Fronto-Orbital Advancement of Craniosynostosis: A Novel Technique of Treatment Using Povidone and Hydrogen Peroxide Solutions.
CureusPrevalence of craniosynostosis in Finland, 1987-2010: A population-based study.
Birth defects researchLong-Term Orbito-Ocular Outcomes following Le Fort III and Monobloc Distraction Osteogenesis in Patients with Syndromic Craniosynostosis.
Plastic and reconstructive surgeryChanges in mandibular position during midface distraction in patients with syndromic craniosynostosis.
Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryEvaluation of neurocognitive and social developments after craniosynostosis surgery.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryA European Multicenter Outcome Study of Perioperative Airway Management Policies following Midface Surgery in Syndromic Craniosynostosis.
Plastic and reconstructive surgeryEndoscopy-Assisted Craniosynostosis Surgery Versus Cranial Vault Remodeling for Non-Syndromic Craniosynostosis: Experience of a Single Center.
Turkish neurosurgeryDelayed Postnatal Synostosis without Spheno-occipital Synchondrosis Fusion: A Curious Case of Apert Syndrome.
Plastic and reconstructive surgery. Global openSyndromic Craniosynostosis: A Comprehensive Review.
CureusThe Role of Virtual Surgical Planning in Surgery for Complex Craniosynostosis.
Plastic and reconstructive surgery. Global openThe effect of continuous positive airway pressure on obstructive sleep apnea in children with syndromic craniosynostosis.
Sleep & breathing = Schlaf & AtmungStrabismus and refraction in non-syndromic craniosynostosis - A longitudinal study up to 5 years of age.
Acta ophthalmologicaIntracranial Pressure, Autoregulation, and Cerebral Perfusion in Infants With Nonsyndromic Craniosynostosis at the Time of Surgical Correction.
NeurosurgerySpring-assisted posterior vault expansion: a parametric study to improve the intracranial volume increase prediction.
Scientific reportsPerioperative Management of Obstructive Sleep Apnea in Patients With Syndromic Craniosynostosis Undergoing LeFort III Osteotomy With Distraction: A Case Series.
Craniomaxillofacial trauma & reconstructionSocial Media and Website Use: The Experiences of Parents and Carers Accessing Care at the Oxford Craniofacial Unit.
The Journal of craniofacial surgerySyndromic Craniofacial Disorders.
Facial plastic surgery clinics of North AmericaThe Outcomes of Endoscopic Suturectomy in Syndromic Craniosynostosis.
The Journal of craniofacial surgeryPosterior cranial vault distraction in children with syndromic craniosynostosis: the era of biodegradable materials-a comprehensive review of the literature and proposed novel global application.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryIncidence of Ventriculomegaly in Patients With Craniosynostosis.
The Journal of craniofacial surgeryMorphometric analysis and outcomes following posterior cranial vault distraction in syndromic and multisuture craniosynostosis.
Journal of plastic, reconstructive & aesthetic surgery : JPRASLeFort III Versus Monobloc Frontofacial Advancement: A Comparative Analysis of Soft Tissue Changes.
The Journal of craniofacial surgeryPlea for systematic prenatal genes panel testing when facing isolated craniosynostosis on fetal imaging.
European journal of obstetrics, gynecology, and reproductive biologyIncidence of Airway Abnormalities in Children With Craniosynostosis.
The Journal of craniofacial surgeryArtificial Intelligence Applications in Diagnosing and Managing Non-syndromic Craniosynostosis: A Comprehensive Review.
CureusSensitivity, Specificity, and Cutoff Identifying Optic Atrophy by Macular Ganglion Cell Layer Volume in Syndromic Craniosynostosis.
OphthalmologyMidface hypoplasia in syndromic craniosynostosis: predicting craniofacial growth via a novel regression model from anatomical morphometric analysis.
International journal of oral and maxillofacial surgeryGenetic diagnostic yield in an 11-year cohort of craniosynostosis patients.
European journal of medical geneticsCan Craniosynostosis be Diagnosed on Physical Examination? A Retrospective Review.
The Journal of craniofacial surgeryComparative Study of Internal Device versus External Device in Le Fort III Distraction for Syndromic Craniosynostosis.
Plastic and reconstructive surgeryWhat We Know About Intracranial Hypertension in Children With Syndromic Craniosynostosis.
The Journal of craniofacial surgeryMinor Suture Fusion is Associated With Chiari Malformation in Nonsyndromic Craniosynostosis.
The Journal of craniofacial surgeryFrequency and predictors of concurrent complications in multi-suture release for syndromic craniosynostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery[Application and development of orthognathic surgery in treatment of syndromic craniosynostosis].
Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgeryA Rare Case of Sagittal Sinus Obstruction Following Posterior Cranial Vault Distraction Osteogenesis.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCLINICOROENTGENOLOGICAL PECULIARITIES OF THE CONGENITAL AND ACQUIRED CRANIOFACIAL ANOMALIES.
Georgian medical newsAre Patients with Syndromic Craniosynostosis at Greater Risk for Epilepsy than Patients with Nonsyndromic Craniosynostosis?
World neurosurgeryFGF signaling in cranial suture development and related diseases.
Frontiers in cell and developmental biologyApert Syndrome: Selection Rationale for Midface Advancement Technique.
Advances and technical standards in neurosurgeryPatient Tailored Surgery in Saethre-Chotzen Syndrome: Analysis of Reoperation for Intracranial Hypertension.
The Journal of craniofacial surgeryFacial skeleton dysmorphology in syndromic craniosynostosis: differences between FGFR2 and no-FGFR2-related syndromes and relationship with skull base and facial sutural patterns.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFamilial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?
European journal of medical geneticsDe novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
American journal of human geneticsSystematic Review of Nonsyndromic Craniosynostosis: Genomic Alterations and Impacted Signaling Pathways.
Plastic and reconstructive surgeryPosterior Cranial Distraction in Craniosynostosis: A Systematic Review of the Literature.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationUtilization of carbonated calcium phosphate cement for contouring cranioplasty in patients with syndromic craniosynostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryThe Need for Additional Surgery after Passive versus Active Approaches to Syndromic Craniosynostosis: A Meta-analysis.
Plastic and reconstructive surgery. Global openUseful Genioplasty for Repeated Recurrent Sleep Apnea of Congenital Anomalies and Its Evaluation.
Plastic and reconstructive surgery. Global openComprehensive Genetic Evaluation of Bulgarian Children with Syndromic Craniosynostosis.
Balkan journal of medical genetics : BJMGLong-term neurocognitive outcomes in 204 single-suture craniosynostosis patients.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryComparison of Internal and External Distraction in Frontofacial Monobloc Advancement: A Three-Dimensional Quantification.
Plastic and reconstructive surgeryCognitive performance in preschoolers with non-syndromic craniosynostosis undergoing surgery: A comparison with typically developing children.
Applied neuropsychology. ChildPrior fronto-orbital advancement associated with complications from transcranial midface surgery in patients with syndromic craniosynostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryOutcomes after Endoscope-Assisted Strip Craniectomy and Orthotic Therapy for Syndromic Craniosynostosis.
Plastic and reconstructive surgeryPractical Algorithm for the Management of Multisutural Craniosynostosis with Associated Chiari Malformation and/or Hydrocephalus.
Pediatric neurosurgeryThree-Dimensional Evaluation of Dental Arches in Individuals with Syndromic Craniosynostosis.
International journal of dentistryMolecular Mechanisms Involved in Craniosynostosis.
In vivo (Athens, Greece)Sex Differences in Comorbidities of Pediatric Craniosynostosis at Presentation.
Pediatric neurosurgeryRetroperitoneal liposarcoma and craniosynostosis: possible genomic relationship, case report, and literature review.
Functional & integrative genomicsHealth-related quality of life of children treated for non-syndromic craniosynostosis.
Journal of plastic surgery and hand surgerySynchondrosis fusion contributes to the progression of postnatal craniofacial dysmorphology in syndromic craniosynostosis.
Journal of anatomySpring forces and calvarial thickness predict cephalic index changes following spring-mediated cranioplasty for sagittal craniosynostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEvaluation and Management of Nonsyndromic Craniosynostosis.
Journal of pediatric neurosciencesManagement of Chiari 1 Malformation and Hydrocephalus in Syndromic Craniosynostosis: A Review.
Journal of pediatric neurosciencesCraniosynostosis: A Pediatric Neurologist's Perspective.
Journal of pediatric neurosciencesFGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome.
CellsERF-related craniosynostosis and surgical management in the paediatric cohort.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAn Elderly Patient With Crouzon Syndrome Treated With Monobloc Distraction.
The Journal of craniofacial surgeryComparing the Increased Intracranial Volume From Different Surgical Methods for Syndromic Craniosynostosis.
The Journal of craniofacial surgeryERN CRANIO patient coverage of craniosynostosis in Europe.
Orphanet journal of rare diseasesDe novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
Human geneticsTWIST1, a gene associated with Saethre-Chotzen syndrome, regulates extraocular muscle organization in mouse.
Developmental biologyFactors Affecting Optic Nerve Damage in Le Fort III Osteotomy: A Retrospective Study.
The Journal of craniofacial surgeryChanges in venous drainage after posterior cranial vault distraction and foramen magnum decompression in syndromic craniosynostosis.
Journal of neurosurgery. PediatricsAccuracy of Detecting Obstructive Sleep Apnea Using Ambulatory Sleep Studies in Patients With Syndromic Craniosynostosis.
The Journal of craniofacial surgeryOrthognathic Surgery in Patients with Syndromic Craniosynostosis.
Oral and maxillofacial surgery clinics of North AmericaSyndromic Craniosynostosis: Cranial Vault Expansion in Infancy.
Oral and maxillofacial surgery clinics of North AmericaAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Daily executive function in children and adolescents with non-syndromic craniosynostosis: association with timing of surgical intervention.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery· 2026· PMID 41820702mais citado
- En-bloc posterior vault distraction including the foramen magnum for Chiari I malformation in severe syndromic craniosynostosis: First cases and literature review.Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery· 2026· PMID 41812278mais citado
- Ophthalmic Pathologies in Craniosynostosis: Risk Factors and Disparities in the United States.
- Morphological analysis of posterior fossa in Apert and Crouzon syndromes before and after posterior cranial vault expansion.Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery· 2026· PMID 41747663mais citado
- Feasibility and reproducibility of handheld and table-mounted optical coherence tomography in children with craniosynostosis.
- Septorhinoplasty in Congenital Craniofacial Anomalies: A Narrative Review of Contemporary Surgical Approaches.
- Surgical Outcomes of Cranial Vault Expansion Following Treatment of Craniosynostosis in Complex Syndromes: A Retrospective-Prospective Patient Series.
- Predictors of Epilepsy in Syndromic Craniosynostosis.
- Digital Planning and Patient-Specific Implants Facilitate Accurate Conventional Sub-Cranial Le Fort III Advancement.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:139393(Orphanet)
- MONDO:0015338(MONDO)
- GARD:19911(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55785407(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
