A Holoprosencefalia (HPE) é uma alteração complexa na formação do cérebro que acontece por causa de uma divisão incompleta do prosencéfalo (a parte inicial do cérebro), entre o 18º e o 28º dia de gestação. Isso afeta tanto a parte da frente do cérebro quanto o rosto, resultando em problemas neurológicos e características faciais diferentes, com gravidade que pode variar.
Introdução
O que você precisa saber de cara
A Holoprosencefalia (HPE) é uma alteração complexa na formação do cérebro que acontece por causa de uma divisão incompleta do prosencéfalo (a parte inicial do cérebro), entre o 18º e o 28º dia de gestação. Isso afeta tanto a parte da frente do cérebro quanto o rosto, resultando em problemas neurológicos e características faciais diferentes, com gravidade que pode variar.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 111 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 320 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
20 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive, Multigenic/multifactorial, Not applicable, Oligogenic, X-linked dominant.
Functions in hedgehog (Hh) signaling. Regulates the release and extracellular accumulation of cholesterol-modified hedgehog proteins and is hence required for effective production of the Hh signal (By similarity). Synergizes with SCUBE2 to cause an increase in SHH secretion (PubMed:22902404)
Membrane
Holoprosencephaly 10
A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE10 inheritance pattern is autosomal recessive. Autosomal dominant inheritance with incomplete penetrance or oligogenic inheritance have been reported in some families.
Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:27234298, PubMed:28965847). Down-regulates GLI1-mediated transactivation of target genes (PubMed:15367681, PubMed:24217340, PubMed:24311597). Down-regulates GLI2-mediated transactivation of target genes (PubMed:24217340, PubMed:24311597). Part of a corepressor complex that a
CytoplasmNucleus
Medulloblastoma
Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children.
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).
Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long-term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1 (PubMed:16024801, PubMed:9372240). Plays an important role in the regulation of centriole duplication. Required for the onset o
Cytoplasm, cytosolCytoplasm, cytoskeleton, microtubule organizing center, centrosome, centrioleCytoplasm, cell cortex
GPI-anchored cell membrane protein involved in Nodal signaling. Cell-associated CRIPTO acts as a Nodal coreceptor in cis. Shedding of CRIPTO by TMEM8A modulates Nodal signaling by allowing soluble CRIPTO to act as a Nodal coreceptor on other cells (PubMed:27881714). Could play a role in the determination of the epiblastic cells that subsequently give rise to the mesoderm (PubMed:11909953)
Cell membraneSecreted
Transcriptional activator. Recognizes and binds to the DNA sequence 5'-TGT[GT][GT]ATT-3'. Required for induction of the goosecoid (GSC) promoter by TGF-beta or activin signaling. Forms a transcriptionally active complex containing FOXH1/SMAD2/SMAD4 on a site on the GSC promoter called TARE (TGF-beta/activin response element)
Nucleus
Specific growth arrest protein involved in growth suppression. Blocks entry to S phase. Prevents cycling of normal and transformed cells. Binds 20(S)-hydroxycholesterol (20(S)-OHC) (By similarity)
Cell membrane
Essential for mesoderm formation and axial patterning during embryonic development
Secreted
Heterotaxy, visceral, 5, autosomal
An autosomal dominant form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX5 clinical features include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncus communis, and dextrocardia.
Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. Required for normal brain, eye, ear and limb development during embryogenesis. Required for normal development of the gonadotropin-releasing hormone (GnRH) neuronal system (PubMed:16384934, PubMed:16597617, PubMed:8663044). Plays a role in neurite outgrowth in hippocampal cells (PubMed:21576111)
Secreted
Hypogonadotropic hypogonadism 6 with or without anosmia
A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
Transmembrane ligand protein of NOTCH1, NOTCH2 and NOTCH3 receptors that binds the extracellular domain (ECD) of Notch receptor in a cis and trans fashion manner (PubMed:11006133). Following transinteraction, ligand cells produce mechanical force that depends of a clathrin-mediated endocytosis, requiring ligand ubiquitination, EPN1 interaction, and actin polymerisation; these events promote Notch receptor extracellular domain (NECD) transendocytosis and triggers Notch signaling through induction
Apical cell membraneCell junction, adherens junctionMembrane raft
Neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures
An autosomal dominant disorder characterized by developmental delay, intellectual disability, seizures, autism spectrum disorder, behavioral abnormalities, and variable non-specific brain malformations.
Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis
NucleusChromosomeChromosome, centromere
Mullegama-Klein-Martinez syndrome
An X-linked neurodevelopmental disorder with variable features including intellectual deficiency, microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, language delay, congenital heart defect, and clinodactyly of the 5th finger.
Functions as a transcription regulator in the hedgehog (Hh) pathway (PubMed:18455992, PubMed:26565916). Functions as a transcriptional activator (PubMed:19878745, PubMed:24311597, PubMed:9557682). May also function as transcriptional repressor (By similarity). Requires STK36 for full transcriptional activator activity. Required for normal embryonic development (PubMed:15994174, PubMed:20685856) Involved in the smoothened (SHH) signaling pathway Involved in the smoothened (SHH) signaling pathway
NucleusCytoplasmCell projection, cilium
Holoprosencephaly 9
A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE9 is characterized by defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and holoprosencephaly-like midfacial hypoplasia. HPE9 inheritance is autosomal dominant.
Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis
Cell membrane
Basal cell nevus syndrome 1
A form of basal cell nevus syndrome, a disease characterized by nevoid basal cell carcinomas and developmental abnormalities such as rib and craniofacial alterations, polydactyly, syndactyly, and spina bifida. In addition, the patients suffer from a multitude of tumors like fibromas of the ovaries and heart, cysts of the skin, jaws and mesentery, as well as medulloblastomas and meningiomas. BCNS1 inheritance is autosomal dominant.
Scaffolding component of the CCR4-NOT complex which is one of the major cellular mRNA deadenylases and is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. Additional complex functions may be a consequence of its influence on mRNA expression. Its scaffolding function implies its interaction with the catalytic complex module and diverse RNA-binding proteins
Cytoplasm, P-bodyNucleus
Holoprosencephaly 12 with or without pancreatic agenesis
A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE12 clinical features include abnormal forebrain development, dysmorphic features, global developmental delay, learning difficulties, and congenital absence of the pancreas in most patients, resulting in early-onset insulin-dependent diabetes mellitus. Other features may include hearing loss and absence of the gallbladder. HPE12 inheritance is autosomal dominant.
The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (By similarity). Both activities result in the cleavage of the full-length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (By similarity). Both activities occur in the endoplasmic reticulum (By similarity). Once cleaved, ShhC is degraded in the endoplasmic reticulum (By simi
Endoplasmic reticulum membraneGolgi apparatus membraneSecretedCell membrane
Microphthalmia/Coloboma 5
A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).
Transcriptional regulator which can act as both a transcriptional repressor and activator by binding a ATTA homeodomain core recognition sequence on these target genes. During forebrain development represses WNT1 expression allowing zona limitans intrathalamica formation and thereby ensuring proper anterio-posterior patterning of the diencephalon and formation of the rostral diencephalon. Acts as a direct upstream activator of SHH expression in the rostral diencephalon ventral midline and that i
Nucleus
Holoprosencephaly 2
A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE2 inheritance is autosomal dominant.
Acts as a transcriptional activator or repressor. Plays important roles in the early stage of organogenesis of the CNS. Activates the transcription of the serotonin transporter SERT in uncrossed ipsilateral retinal ganglion cells (iRGCs) to refine eye-specific projections in primary visual targets. Its transcriptional activity is repressed by MDFIC. Involved in the formation of the ipsilateral retinal projection at the optic chiasm midline. Drives the expression of EPHB1 on ipsilaterally project
NucleusCytoplasm
Holoprosencephaly 5
A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE5 inheritance is autosomal dominant.
The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by calcium-activated phosphatidylinositol-specific phospholipase C enzymes
CytoplasmMembrane
Holoprosencephaly 14
A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE14 inheritance is autosomal recessive.
Binds to a retinoid X receptor (RXR) responsive element from the cellular retinol-binding protein II promoter (CRBPII-RXRE). Inhibits the 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element. Active transcriptional corepressor of SMAD2. Links the nodal signaling pathway to the bifurcation of the forebrain and the establishment of ventral midline structures. May participate in the transmission of nuclear signals during development and in the adu
Nucleus
Holoprosencephaly 4
A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE4 inheritance is autosomal dominant.
Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells (By similarity)
Cell membrane
Holoprosencephaly 11
A form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. It is a genetically and clinically heterogeneous disorder with a wide spectrum of severity, ranging from alobar holoprosencephaly with severe facial abnormalities, such as cyclopia and proboscis, to mild forms that include lobar or microform holoprosencephaly, without cerebral malformations and with mild craniofacial defects. HPE11 inheritance is autosomal dominant.
Variantes genéticas (ClinVar)
1,947 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2,900 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
91 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 — Holoprosencefalia
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Publicações mais relevantes
Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family.
Carriers of balanced pericentric inversions are at risk for producing unbalanced gametes because of meiotic recombination resulting in de novo deletion and duplication of distal chromosome ends. Recombinant chromosomes generally lead to significant imbalances resulting in anomalous clinical phenotypes in offspring, hence they are typically not inherited. Therefore, the vertical transmission of recombinant chromosomes is a clinically rare event. Using genomic microarray and karyotyping, we describe inheritance of recombinant chromosomes in a three-generation family with the grandmother carrying a mosaic pericentric inversion of chromosome 18. Three children inherited the balanced inversion and one child with a mild phenotype inherited a de novo recombinant chromosome 18. In the third generation, a newborn with a variant of holoprosencephaly inherited an unmodified recombinant chromosome from her mother. Despite having the same karyotype predicting loss of the TGIF1 gene from the 18p terminus, the mother exhibits a relatively unaffected phenotype. The cousin of the child with holoprosencephaly carries the reciprocal recombinant chromosome 18 with a much milder phenotype. We verified the cytogenetic mechanism and corresponding clinical phenotypes in affected individuals and illustrated possible recombinant chromosome consequences of the inversion of chromosome 18 in this three-generation family.
A Rare Case Report on Holoprosencephaly With Cyclopia: Jimma University Medical Center, Ethiopia.
Holoprosencephaly is a congenital brain malformation resulting from incomplete division of the forebrain (prosencephalon) into two hemispheres during early embryonic development, typically during the 4th-6th week of gestation. Cyclopia is a rare and fatal form of holoprosencephaly characterized by severe craniofacial abnormalities resulting from incomplete cleavage of the embryonic prosencephalon, leading to the failure of separation of the orbital cavities. The prevalence is 1.31 per 10,000 for live births and 1:250 for spontaneous abortions. This is a case report of a 33-year-old Gravida 5, Para 4 woman with no history of abortion and a prior history of normal vaginal deliveries, who presented to the obstetric triage with a 7-day history of absent fetal movements. After a detailed history was taken, a physical examination and ultrasound scan confirmed an intrauterine fetal death. Termination of the pregnancy was decided after the mother was counseled on the possible outcome of the pregnancy. Induction with misoprostol per the hospital protocol was given to deliver an 1800-g, Grade 3 macerated male fetus with a diagnosis of a severe form of holoprosencephaly with cyclopia and proboscis. Although holoprosencephaly is rare, early first-trimester anatomical ultrasound conducted by an experienced clinician is critical for accurate diagnosis, and evaluation of severity is pivotal for counseling families regarding expected outcomes and pregnancy termination decisions.
Cyclopia: Facial deformity indicating severe holoprosencephaly with imaging findings of brain: A case report.
Holoprosencephaly results from incomplete separation of the cerebral hemispheres. Cyclopia is a facial manifestation of Holoprosencephaly, characterized by a midline single orbit and proboscis. Prenatal diagnosis is done by ultrasonography and can be supplemented by MRI. This case uniquely presents ultrasound and gross morphology correlation of cyclopia in a resource limited setting, and a correlation between facial features, intra-cranial anatomy, and lifespan. We report a 39-year-old gravida 3 para 2 woman with a history of alcohol consumption who presented for her first antenatal checkup at 19 weeks of gestation. Ultrasound revealed a single lateral ventricle with fused thalami, absent orbital structures, and a midline cystic protrusion (proboscis). After thorough counseling, pregnancy was terminated, and cyclopia was confirmed on gross inspection. Karyotyping and fetal echocardiography were not done due to parental preference. Alobar holoprosencephaly, the most severe subtype, is diagnosed by identification of single ventricle and associated facial anomalies. Lobar holoprosencephaly, however, requires coronal imaging to demonstrate absence of cavum septum pellucidum and fusion of frontal horns. The severity of facial anomalies correlates with underlying brain malformations. Chromosomal anomalies, maternal diabetes, infections, and teratogenic exposures like alcohol are known risk factors. Differential diagnoses include proboscis lateralis, midline encephaloceles and frontonasal dysplasia. This case highlights the prognostic significance of facial and brain anomalies and diagnostic utility of prenatal ultrasound in diagnosing holoprosencephaly underscoring the necessity of timely prenatal visits. Definitive genomic studies were not feasible, but maternal alcohol consumption can be considered as a possible risk factor.
Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center.
Holoprosencephaly (HPE) is a rare congenital malformation of the forebrain caused by incomplete midline cleavage, often accompanied by craniofacial abnormalities. The condition arises from multifactorial etiologies, including genetic, environmental, and maternal factors. Early prenatal diagnosis is essential for parental counseling, management decisions, and detection of associated anomalies. We report two cases of alobar HPE diagnosed in the third trimester by ultrasonography. The first case involved a 41-year-old primigravida at 32 weeks of gestation, with ultrasound findings of fused thalami, single ventricle, microcephaly, and hypotelorism. The fetus was delivered with severe midline craniofacial abnormalities and a normal female karyotype (46,XX). The second case involved a 41-year-old multiparous woman at 32 weeks of gestation. Ultrasound revealed fused thalami, absent falx cerebri and corpus callosum, and a proboscis. The infant presented with synophthalmia and proboscis, and karyotyping confirmed trisomy 13. Both pregnancies were terminated after counseling, and postnatal findings confirmed the prenatal diagnosis. This case series demonstrates the phenotypic and chromosomal variability within alobar HPE and underscores the diagnostic value of detailed ultrasonography combined with genetic analysis. Late detection in the third trimester limited reproductive options and highlights the importance of improved anomaly screening pathways. Early diagnosis remains crucial for comprehensive parental counselling and perinatal planning.
Cyclopia, A Rare and Lethal Congenital Anomaly: Report of Two Cases, 2025.
Cyclopia is an extremely rare and fatal congenital anomaly in which causes are not commonly known. This condition is marked by the failure of the eye orbits to properly divide, resulting in a single eye field or closely positioned eye fields. There is no specific treatment, and the prognosis is generally poor with most babies dying shortly after birth or during infancy. These two newborns were born to multiparous mothers, which died soon after birth. Diagnosis was made postpartum with centrally located single eye and long proboscis on the midline of the forehead, with the second had associated with cystic hygroma. Both cases had no other gross visible congenital anomalies on the extremities, abdomen, and head. But other anomalies as renal, central nervous system, cardiac and chromosomal anomalies cannot be excluded. Both cases had died immediately, and health professionals should experience with detailed antenatal ultrasound scanning to detect these congenital anomalies antepartum for better counseling of patients. Routine antenatal ultrasound assessment is crucial in low resource countries where ultrasound scanning is commonly done in higher health facilities.
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A Rare Case Report on Holoprosencephaly With Cyclopia: Jimma University Medical Center, Ethiopia.
Cyclopia: Facial deformity indicating severe holoprosencephaly with imaging findings of brain: A case report.
Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center.
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A Rare Case Report on Holoprosencephaly With Cyclopia: Jimma University Medical Center, Ethiopia.
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Radiology case reportsPhenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center.
International medical case reports journalCyclopia, A Rare and Lethal Congenital Anomaly: Report of Two Cases, 2025.
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Children (Basel, Switzerland)Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.
Medical sciences (Basel, Switzerland)Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.
Experimental and therapeutic medicineCongenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report.
CureusThe Role of the Hedgehog Pathway in Alcohol-Induced Birth Defects.
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European journal of human genetics : EJHGHoloprosencephaly and cyclopia in bmp7b and bmpr1ba Crispant zebrafish.
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Ecotoxicology and environmental safetyHypersynchronous EEG Patterns in a Patient with Holoprosencephaly.
Clinical EEG and neurosciencePartial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly.
Human genome variationInsights into holoprosencephaly using multimodal high-resolution imaging and 3D histology.
Journal of neuropathology and experimental neurologyEffects of alcohol on the transcriptome, methylome and metabolome of in vitro gastrulating human embryonic cells.
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Radiology case reportsSitus Inversus in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia-Otocephaly Complex.
American journal of medical genetics. Part ASonographic diagnosis of fetal eye anomalies and their association with syndromal diseases: A retrospective multicenter analysis of 264 cases.
Acta obstetricia et gynecologica ScandinavicaDetailed Analysis of Fetal Malformations of the Supratentorial Structures of the Brain in High-Risk Pregnancies at 12-14 Gestational Weeks by Transvaginal 3D Ultrasound Examination.
Ultrasound international openLobar holoprosencephaly with associated meningocele: A rare case report of a 25-year-old patient with multiple seizures.
Radiology case reportsComplete pentalogy of Cantrell associated with ectopia cordis and multiple anomalies: A case report from a low-resource setting.
Radiology case reportsSonic Hedgehog Determines Early Retinal Development and Adjusts Eyeball Architecture.
International journal of molecular sciencesHydranencephaly in a Newborn: A Case Report and a Review of the Literature.
CureusSolitary median maxillary central incisor syndrome caused by 22q11.2 microdeletion.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyIntracranial hemorrhage and additional anomalies detected on prenatal magnetic resonance imaging: A large, retrospective study in two tertiary medical institutions.
HeliyonAlobar holoprosencephaly with cyclopia and proboscis.
Pediatric radiologyAlobar Holoprosencephaly in a Newborn: A Case Report of Prenatal Diagnosis and a Review of the Literature.
CureusEmbryotoxicity of statins and other prescribed drugs with reported off-target effects on cholesterol biosynthesis.
Reproductive toxicology (Elmsford, N.Y.)Mesencephalosynapsis and aqueductal stenosis.
Journal of neuropathology and experimental neurologyFetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.
Prenatal diagnosisPrenatal ultrasound assisted diagnosis of de-novo terminal 7q deletion syndrome: A case report with literature review.
Radiology case reportsPrenatally Diagnosed Holoprosencephaly: Review of the Literature and Practical Recommendations for Pediatric Neurologists.
Pediatric neurologyMRI Evaluation of Corpus Callosum Malformation and Associated Anomalies: A Retrospective Cross-Sectional Study.
CureusThe Role of Antenatal Ultrasound Scans in the Early Detection of Alobar Holoprosencephaly: A Case Report.
CureusCorpus callosal agenesis with gray matter heterotopia and bilateral eye coloboma in an infant: A case report.
Radiology case reportsEfcab7 deletion sensitizes mice to the teratogenic effects of gastrulation-stage alcohol exposure.
Reproductive toxicology (Elmsford, N.Y.)Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation.
Journal of human geneticsHoloprosencephaly spectrum: an up-to-date overview of classification, genetics and neuroimaging.
Japanese journal of radiologyLoss-of-Function Variant in PPP1R12A -Related Urogenital and/or Brain Malformation Syndrome: Expanded Phenotype of Sex Reversal.
American journal of medical genetics. Part ACongenital Pyriform Aperture Stenosis: Not All Patients Require Open Repair.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryARID1A-BAF coordinates ZIC2 genomic occupancy for epithelial-to-mesenchymal transition in cranial neural crest specification.
American journal of human geneticsCNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.
American journal of medical genetics. Part AIntroduction of a nationwide first-trimester anomaly scan in the Dutch national screening program.
American journal of obstetrics and gynecologyPrenatal detection of distal 18p deletion by chromosomal microarray analysis: Three case reports and literature review.
MedicinePulsatile gonadotropin-releasing hormone therapy induces spermatogenesis in pituitary stalk interruption syndrome: A case report and review of the literature.
World journal of clinical casesDual white matter pathology in fetal holoprosencephaly featuring concurrent malformative and destructive features: A case series.
Journal of neuropathology and experimental neurologyPhenotypic and cytogenetic variability of patau syndrome in Morocco.
African health sciencesCDON Mutation Related to Nose Deformity with Variable Expression in Holoprosencephaly in an Iranian Family: A Case Report.
Iranian journal of public healthPrevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.
Journal of community geneticsKnockout mice with pituitary malformations help identify human cases of hypopituitarism.
Genome medicineHuman Malformed Perinatal Anthropological Crania Contribute to New Insight in the Extension of Bone Malformations in Cranial Development.
Fetal and pediatric pathologyEffects of GLP1 receptor analogues in obesity with neurodevelopmental disorder: case report of a patient with holoprosencephaly.
European journal of clinical nutritionUse of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly.
Children (Basel, Switzerland)Classification of isolated versus multiple birth defects: An automated process for population-based registries.
American journal of medical genetics. Part APrenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansPost-mortem rapid aneuploidy testing for holoprosencephaly.
Birth defects researchTruncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly.
American journal of medical genetics. Part AImpact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth.
Clinical and experimental dental researchDetection of non-cardiac fetal abnormalities on ultrasound at 11-14 weeks: systematic review and meta-analysis.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyDISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.
Genetics in medicine : official journal of the American College of Medical GeneticsCheiloplasty for False Median Cleft Lip Associated With Holoprosencephaly: The Use of Skin Graft for Philtrum Reconstruction, the Risk of Simultaneous Columella Reconstruction.
EplastyA male fetus with cyclopia was discovered after miscarriage: A rare case report from Syria.
Clinical case reportsPrdm15 acts upstream of Wnt4 signaling in anterior neural development of Xenopus laevis.
Frontiers in cell and developmental biologyHoloprosencephaly: Syndromic or Non-syndromic is the question.
Indian journal of pathology & microbiologySTAG2: Computational Analysis of Missense Variants Involved in Disease.
International journal of molecular sciencesPositive non-invasive prenatal testing for trisomy 13 in the first trimester in a pregnancy with fetal holoprosencephaly, cebocephaly and postaxial polydactyly.
Taiwanese journal of obstetrics & gynecologyDifferential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.
Genetics in medicine : official journal of the American College of Medical GeneticsExome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.
PloS oneThe rare malformation holoprosencephaly: pathogenesis, association with pregestational diabetes and the possible link with food pollutants.
Annali dell'Istituto superiore di sanitaPrenatal diagnosis of Hartsfield syndrome with a novel genetic variant.
Prenatal diagnosisPrenatal Magnetic Resonance Imaging helps Discover Cerebellar Dysplasia or Malformations in Foetuses.
Current medical imagingComparing Repeatability and Agreement between Commonly Used Corneal Imaging Devices in Keratoconus.
Optometry and vision science : official publication of the American Academy of OptometrySurvival of neonates, infants, and children with birth defects: a population-based study in Texas, 1999-2018.
Lancet regional health. AmericasWhole-genome sequencing analysis in fetal structural anomalies: novel phenotype-genotype discoveries.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyEfficacy of tolvaptan in an infant with syndrome of inappropriate antidiuretic hormone secretion associated with holoprosencephaly: A case report.
World journal of clinical casesHoloprosencephaly (HPE) : case report and review of the literature.
International journal of surgery case reportsSonic hedgehog signaling in craniofacial development.
Differentiation; research in biological diversityThe utility of balloon dilation for piriform aperture stenosis - A first line surgical treatment.
International journal of pediatric otorhinolaryngologyCongenital complete arhinia with alobar holoprosencephaly.
Ghana medical journalSemilobar Holoprosencephaly Caused by a Novel and De Novo ZIC2 Pathogenic Variant.
Balkan journal of medical genetics : BJMGAdult Radiographic Presentation of Corpus Callosal Agenesis With a Single Interhemispheric Cyst and Dandy-Walker Malformation: A Case Report.
CureusCranial vault reduction cranioplasty for severe macrocephaly due to holoprosencephaly and subdural hygroma: a case report.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryBiocontrol of Fusarium Species Utilizing Indigenous Rooibos and Honeybush Extracts.
Microbiology spectrumHoloprosencephaly: Review of Embryology, Clinical Phenotypes, Etiology and Management.
Children (Basel, Switzerland)Novel sonic hedgehog gene variant in a patient with hyponatremia, microsomia, and midline defects; phenotype description in association with a variant of unknown significance [c.755_757del p.(Phe252del)] and an approach to salt-wasting in SHH-related adrenal disorders.
Journal of pediatric endocrinology & metabolism : JPEMHoloprosencephaly with a Special Form of Anophthalmia Result from Experimental Induction of bmp4, Oversaturating BMP Antagonists in Zebrafish.
International journal of molecular sciencesIsolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report.
The American journal of case reportsSchizencephaly diagnosed after an episode of seizure during labor: A case report.
Clinical case reportsThe role of routine first-trimester ultrasound screening for central nervous system abnormalities: a longitudinal single-center study using an unselected cohort with 3-year experience.
BMC pregnancy and childbirthSolitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report.
International journal of clinical pediatric dentistryGenotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.
Ophthalmic geneticsRole of Fetal Magnetic Resonance Imaging in Differentiating Isolated Septal Agenesis from Septo-Optic Dysplasia: Case Study and Review.
Fetal diagnosis and therapyCongenital hyporhinia with associated malformations: Case report of a rare congenital anomaly.
Clinical case reportsBrain malformations in diprosopia observed in clinical cases, museum specimens and artistic representations.
Orphanet journal of rare diseasesHoloprosencephaly in Patau Syndrome.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao PauloFetal Cyclopia, Proboscis, Holoprosencephaly, and Polydactyly: A Case Report With Review of Literature.
CureusRare manifestations of alobar holoprosencephaly and the potential causes: a report of two cases.
Annals of medicine and surgery (2012)Mystical and mythological believes not only limited to psychiatric diseases? A dynamic overview of medicine.
Annals of medicine and surgery (2012)Antenatal and Postnatal Diagnosis of Semilobar Holoprosencephaly: Two Case Reports.
Global pediatric healthGeospatiotemporal and Causal Inferential Study of European Epidemiological Patterns of Cannabis- and Substance-Related Congenital Orofacial Anomalies.
Journal of xenobioticsA novel missense variant of FGFR1 in a Japanese girl with Kallmann syndrome and holoprosencephaly.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyPericentric Inversion of Chromosome 9 in Twins With Cyclopia: A Rare Entity.
CureusCNKSR2, a downstream mediator of retinoic acid signaling, modulates the Ras/Raf/MEK pathway to regulate patterning and invagination of the chick forebrain roof plate.
Development (Cambridge, England)[Value of chromosomal microarray analysis for the diagnosis of fetuses with anomalies of central nervous system].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsFirst Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies.
Brain sciencesTMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.
Proceedings of the National Academy of Sciences of the United States of AmericaCyclopia in a newborn rhesus macaque born to a dam infected with SIV and receiving antiretroviral therapy during pregnancy.
Current trends in immunologyINDIAMAN-20 (INstant DIAgnosis of 20 Major ANomalies) protocol: application of IOTA diagnostic strategy to fetal anomalies.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyPathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations.
Archives of gynecology and obstetricsAn analysis of the incidence, risk factors, and timing of development of cyclops lesions after anterior cruciate ligament reconstruction.
The KneeBone-patellar tendon-bone autograft and female sex are associated with the presence of cyclops lesions and syndrome after anterior cruciate ligament reconstruction.
Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKAEcce Homo: Moving past labels to lives.
International journal of paleopathologyEvolution in the clinic: Maladaptive units and "minor anomalies".
American journal of medical genetics. Part AMuscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome.
American journal of medical genetics. Part ASynophtalmia on a newborn.
SAGE open medical case reports[Syntelencephaly: medial interhemispheric variant of holoprosencephaly].
The Pan African medical journalPrognostic factors, psychomotor development and life of trisomy 13 patients.
Pediatrics international : official journal of the Japan Pediatric SocietyImaging of Congenital Malformations of the Brain.
Clinics in perinatologyCyclops lesions associated with both bundles and selective bundle repair of the anterior cruciate ligament.
Acta radiologica (Stockholm, Sweden : 1987)Antenatal Ultrasonographic Diagnosis of a Constellation of Alobar Holoprosencephaly, Ethmocephaly, and Hydronephrosis in a Case of Early-Onset Intrauterine Growth Retardation: A Case Report.
CureusAn infant with patau syndrome associated with congenital heart defects.
Annals of medicine and surgery (2012)A plunging ranula in a child with holoprosencephaly: a case of unique pathophysiology and difficult airway management.
Journal of the Korean Association of Oral and Maxillofacial SurgeonsThe diagnosis of the middle interhemispheric variant of holoprosencephaly with fetal MRI.
RadiologiaSinus pericranii associated with syntelencephaly: a case report.
BMC neurologyCampylobacter jejuni subdural hygroma infection in a 2-year old boy: case report and a brief literature review.
BMC infectious diseasesHeterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.
Human molecular geneticsNon-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females.
Journal of clinical medicineClinical spectrum of orbital and ocular abnormalities on fetal MRI.
Pediatric radiologyPrenatal diagnosis and pregnancy outcome of major structural anomalies detectable in the first trimester: A population-based cohort study in the Netherlands.
Paediatric and perinatal epidemiologyVertical course of fetal anterior cerebral artery as clue to prenatal diagnosis of syntelencephaly.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyCyclopia baby: Congenital lethal malformation: Rare case report.
International journal of surgery case reportsFetal Brain Development: Regulating Processes and Related Malformations.
Life (Basel, Switzerland)Hedgehog Autoprocessing: From Structural Mechanisms to Drug Discovery.
Frontiers in molecular biosciencesBrain Organization and Human Diseases.
CellsGenomic architecture of fetal central nervous system anomalies using whole-genome sequencing.
NPJ genomic medicineFetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyPolymicrogyria, aventriculy, polydactyly, encephalocele, callosal agenesis (PAPEC): a new syndrome?
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAlobar holoprosencephaly with cebocephaly in a neonate: A rare case report from Northern Tanzania.
International journal of surgery case reportsIntracerebral retina-like pigmented tissue in a stillborn fetus with holoprosencephaly.
Clinical neuropathologySurvival of children with rare structural congenital anomalies: a multi-registry cohort study.
Orphanet journal of rare diseasesSuccessful treatment of hypodipsic/adipsic hypernatremia in a cat with lobar holoprosencephaly using oral desmopressin.
JFMS open reportsMosaicism in Hartsfield syndrome.
European journal of medical geneticsFamilial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype.
Molecular cytogeneticsSonography of fetal holoprosencephaly: a guide to recognize the lesser varieties.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansAlobar holoprosencephaly: Exploring mothers' perspectives on prenatal decision-making and prognostication.
Prenatal diagnosisEntomopathogenic nematodes associated with organic honeybush (Cyclopia spp.) cultivation in South Africa.
Journal of helminthologyApplication of quantitative fluorescent polymerase chain reaction analysis for the rapid confirmation of trisomy 13 of maternal origin in a pregnancy with fetal holoprosencephaly, cyclopia, polydactyly, omphalocele and cell culture failure.
Taiwanese journal of obstetrics & gynecologyAlobar Holoprosencephaly in an Aborted American Quarter Horse Fetus.
Journal of equine veterinary sciencePatterning of the antero-ventral mammalian brain: Lessons from holoprosencephaly comparative biology in man and mouse.
WIREs mechanisms of diseaseRisks of specific congenital anomalies in offspring of women with diabetes: A systematic review and meta-analysis of population-based studies including over 80 million births.
PLoS medicineFinal notes on: Response to Galassi et al. concerning the paper by Turgut et al. "Three mythic giants for common fœtal malformation called 'cyclopia': Polyphemus, Tepegöz and Grendel", Child's Nervous System, DOI 10.1007/s00381-019-04,207-y.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryHoloprosencephalia, hypoplasia of corpus callosum and cerebral heterotopia in a male belted Galloway heifer with adipsia.
BMC veterinary researchAsymptomatic Hypernatremia in an Infant with Midline Defects.
EJIFCCVaried presentation of lobar holoprosencephaly as a cause of macrocephaly in a neonate.
BMJ case reportsConcepts in Multifactorial Etiology of Developmental Disorders: Gene-Gene and Gene-Environment Interactions in Holoprosencephaly.
Frontiers in cell and developmental biologyPreterm infant with diprosopus and holoprosencephaly.
Clinical case reportsZebrafish as a Model for Fetal Alcohol Spectrum Disorders.
Frontiers in pharmacologyHome-Based Monitoring of Eating in Adolescents: A Pilot Study.
NutrientsRhomboencephalosynapsis: Review of the Literature.
World neurosurgeryTruncating and zinc-finger variants in GLI2 are associated with hypopituitarism.
American journal of medical genetics. Part ACase Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies.
Frontiers in geneticsStructural Insight into the Binding of TGIF1 to SIN3A PAH2 Domain through a C-Terminal Amphipathic Helix.
International journal of molecular sciencesRare case of skeletal third class in a subject suffering from Solitary Median Maxillary Central Incisor syndrome (SMMCI) associated to panhypopituitarism.
Head & face medicineSolitary Median Maxillary Central Incisor: A Case Report with 3-Year Follow-Up and Literature Review.
Contemporary clinical dentistryCyclopia, a newborn with a single eye, a rare but lethal congenital anomaly: A case report.
International journal of surgery case reportsAlobar Holoprosencephaly with Cebocephaly in a Neonate Born to an HIV-Positive Mother in Eastern Uganda.
Case reports in otolaryngologyGAS1 is required for NOTCH-dependent facilitation of SHH signaling in the ventral forebrain neuroepithelium.
Development (Cambridge, England)Associações
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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.
- Vertical inheritance and unique differential phenotypes of reciprocal recombinant chromosome 18 within a multi-generation family.
- A Rare Case Report on Holoprosencephaly With Cyclopia: Jimma University Medical Center, Ethiopia.
- Cyclopia: Facial deformity indicating severe holoprosencephaly with imaging findings of brain: A case report.
- Phenotypic Spectrum and Chromosomal Discordance in Alobar Holoprosencephaly: A Comparative Case Series from a Tertiary Referral Center.
- Cyclopia, A Rare and Lethal Congenital Anomaly: Report of Two Cases, 2025.
- CNOT1-Related Vissers-Bodmer Syndrome.
- Counseling Preferences of Expectant Parents With a Fetal Neurologic Diagnosis: A Scoping Review of the Literature.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2162(Orphanet)
- MONDO:0016296(MONDO)
- GARD:6665(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1459821(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
