[Application of SNP linkage-based PGT-M to block the transmission of EFNB1 deletion in a Chinese family affected with Cranio-facial-nasal syndrome].

Navigating challenges: a child with Apert syndrome and global developmental delay from a low-income family.

Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.

Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.

Surgeon- and parent-reported outcome after surgery for craniosynostosis.

Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis.

Sagittal craniosynostosis with Moebius syndrome; case illustration: first case in the literatüre.

Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant.

Long-term neurocognitive and behavioral outcomes in patients with non-syndromic craniosynostosis.

Aberrant Splicing Caused by Compound Heterozygous Variants in WDR35 Identified in a Fetus With Cranioectodermal Dysplasia 2.

Unveiling the Phenotypic Spectrum of Miller Syndrome: A Systematic Review.

Are we all seeing the same thing? Discrepancies between parent-reported and physician-reported positional plagiocephaly severity scores.

Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis.

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations.

Treatment resistant depression: A case of Muenke syndrome.

Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.

Social Perceptions of Preoperative and Postoperative Photographs of Patients With Syndromic Craniosynostosis Undergoing Le Fort III Advancement.

Information Needs of Australian Families Living with Craniosynostosis: A Qualitative Study.

Craniosynostosis: Current Evaluation and Management.

Confronting Craniosynostosis: Maternal Concerns, Challenges, and Coping for their Children.

Biobank for craniosynostosis and faciocraniosynostosis, rare pediatric congenital craniofacial disorders: a study protocol.

AXIN1 mutations in nonsyndromic craniosynostosis.

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Parental satisfaction with hospital care for children with non-syndromic craniosynostosis: A mixed-method study.

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.

Noonan syndrome-like phenotype associated with an ERF frameshift variant.

An Ultra-Rare Mixed Phenotype with Combined AP-4 and ERF Mutations: The First Report in a Pediatric Patient and a Literature Review.

Eyeing Risks: A Critical Analysis of the Use of Periorbital Steroids in Fronto-orbital Advancement.

A second hotspot for pathogenic exon-skipping variants in CDC45.

Prospective Evaluation of Health-Related Quality-of-Life in Children with Craniosynostosis.

Predisposing Factors for Postoperative Complications in the Year following Frontoorbital Advancement and Remodeling: A Single-Institution Study of 267 Patients.

Evaluation of neurocognitive and social developments after craniosynostosis surgery.

Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.

The influence of orbital architecture on strabismus in craniosynostosis.

Social Media and Website Use: The Experiences of Parents and Carers Accessing Care at the Oxford Craniofacial Unit.

YouTube™ as a source of parents' information for craniosynostosis.

Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.

Patient-reported outcome measures more than fifteen years after treatment of sagittal or metopic craniosynostosis: a prospective cohort study.

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.

Genetic Subtypes of Apert Syndrome Are Associated With Differences in Airway Morphology and Early Upper Airway Obstruction.

Craniofacial anomalies in a murine model of heterozygous fibroblast growth factor 10 gene mutation.

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

Familial monoallelic CYP26B1 truncating variant causes a syndromic craniosynostosis due to haploinsufficiency ?

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

Fusion of Lateral Calvarial Sutures on Volume-Rendered Computed Tomography Reconstructions in Patients With Known Craniosynostosis.

Molecular Scalpels: The Future of Pediatric Craniofacial Surgery?

Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.

Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings.

Apert Syndrome Type III Hand: Prevalence and Outcomes.

Dental management of a pediatric patient with progressive familial intrahepatic cholestasis having dental anomalies: a case report and brief review of the literature.

Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.

A multi-omic brain gut microbiome signature differs between IBS subjects with different bowel habits.

Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.

Gillessen-Kaesbach-Nishimura syndrome in two fetuses from Turkey.

Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports.

Townes-Brocks syndrome with craniosynostosis in two siblings.

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.

Aesthetic results in children with single suture craniosynostosis: proposal for a modified Whitaker classification.

A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV.

Factors Associated with Behavioral Disorders in Children with Congenital Zika Syndrome and Their Families-A Cross-Sectional Study.

Drosophila Homolog of the Human Carpenter Syndrome Linked Gene, MEGF8, Is Required for Synapse Development and Function.

Mother and Daughter Carrying of the Same Pathogenic Variant in FGFR2 with Discordant Phenotype.

Intrafamilial variability in six family members with ERF-related craniosynostosis syndrome type 4.

[Analysis of phenotype and genetic variant in a family with Shprintzen-Goldberg syndrome].

Raising a Child with Craniosynostosis: Psychosocial Adjustment in Caregivers.

Normocephalic sagittal craniosynostosis in young children is common and unrecognized.

Mechanical loading of cranial joints minimizes the craniofacial phenotype in Crouzon syndrome.

First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1.

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.

Novel FGF9 variant contributes to multiple synostoses syndrome 3.

Primary Delayed Onset Craniosynostosis in a Child With ERF-Related Craniosynostosis Syndrome and Familial Cerebral Cavernous Malformation Syndrome.

Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.

Bohring-Opitz syndrome caused by a novel ASXL1 mutation (c.3762delT) in an IVF baby: A case report.

Parental Satisfaction from Telemedicine in the Follow-up of Children Operated for Craniosynostosis during COVID-19 Pandemic.

Psychological Adjustment in Apert Syndrome: Parent and Young Person Perspectives.

Syndromic Craniosynostosis: Objective and Parent-Reported Outcome Measurements after Cranio-Facial Remodelling Surgeries.

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

De novo ALX4 variant detected in child with non-syndromic craniosynostosis.

Surgical Result and Identification of FGFR2 Variants Using Whole-Exome Sequencing in a Chinese Family With Crouzon Syndrome.

The association of Greig syndrome and mastocytosis reveals the involvement of the hedgehog pathway in advanced mastocytosis.

Health-related quality of life in children after surgical treatment of non-syndromal craniosynostosis.

Infantile systemic hyalinosis: Variable grades of severity.

Multi-suture craniosynostosis in c.1570C>T (p.Arg524Trp) mutated TRAF7: a case report.

Familial Pfeiffer Syndrome: Variable Manifestations and Role of Multidisciplinary Team Care.

Biallelic variants in RNU12 cause CDAGS syndrome.

Impact of health disparities on treatment for single-suture craniosynostosis in an era of multimodal care.

Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.

[Saethre-Chotzen syndrome: a case report].

A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis.

Concurrent Presentations of Hereditary Spherocytosis and Craniosynostosis Syndromes in Siblings: A Case Series.

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.

Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.

Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3.

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.

Lateral and Frontal Cephalometric Measurements in a Cohort With Saethre-Chotzen Syndrome.

[CDAGS syndrome (craniostenosis, deafness, anal abnormalities and genitourinary malformations with skin rash)].

Novel GLI3 pathogenic variants in complex pre- and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome.

Caput membranaceum: A novel clinical presentation of ZIC1 related skull malformation and craniosynostosis.

Understanding families' experiences following a diagnosis of non-syndromic craniosynostosis: a qualitative study.

Clinical manifestations of 11 children with fronto-ocular syndrome (FOS): a case series.

Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.

Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles.

Social Experiences of Turkish Parents Raising a Child With Apert Syndrome: A Qualitative Study.

Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.

Sporting activity after craniosynostosis surgery in children: a source of parental anxiety.

Prenatal diagnosis of Greig Cephalopolysyndactyly Syndrome. When to suspect it.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Novel mutation detection in craniosynostosis promotes characterization, identification, gene expression, tissue engineering and helps clinical practice and translational research.

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.

A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features.

NGS targeted screening of 100 Scandinavian patients with coronal synostosis.

Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome.

Apert syndrome: prenatal diagnosis challenge.

Parents' Experiences of Their Child's Craniosynostosis and the Initial Care Process.

Minimally Invasive Endoscopic Surgery for Infantile Craniosynostosis: A Longitudinal Cohort Study.

Phenotypic variability in Muenke syndrome-observations from five Danish families.

[Neuropsychological consequences of craniosynostosis: Non-syndromic scaphocephaly].

Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome.

Recent advances in trigonocephaly.

What remains of non-syndromic bicoronal synostosis?

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.

Olfactory bulb and olfactory tract abnormalities in acrocallosal syndrome and Greig cephalopolysyndactyly syndrome.

Novel GLI3 variant causes Greig cephalopolysyndactyly syndrome in three generations of a Lithuanian family.

A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects.

Mutations in TFAP2B and previously unimplicated genes of the BMP, Wnt, and Hedgehog pathways in syndromic craniosynostosis.

Shprintzen-Goldberg Syndrome: A Rare Disorder.

Muenke syndrome: Medical and surgical comorbidities and long-term management.

Autistic symptoms in Greig cephalopolysyndactyly syndrome: a family case report.

Incidence of Familial Craniosynostosis Among Patients With Nonsyndromic Craniosynostosis.

Nonsyndromic Craniosynostosis.

Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Clinical and genetic findings of two cases with Apert syndrome.

Novel mutation in MASP1 gene in a new family with 3MC syndrome.

Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.

[Clinical features and mutational analysis of a case with Sensenbrenner syndrome].

Chinese patients with p.Ala172Phe-related Pfeiffer syndrome: a case and literature review.

Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother.

Genetics of Nonsyndromic Craniosynostosis.

Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.

Non-pharmacological treatment of psychiatric disorders in individuals with 22q11.2 deletion syndrome; a systematic review.

Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model.

Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family.

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.

B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.

What's New in Syndromic Craniosynostosis Surgery?

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

Nationwide survey of Baller‑Gerold syndrome in Japanese population.

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.

A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners.

Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report.

COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

Molecular Analysis of Ephrin A4 and Ephrin B1 in a Rabbit Model of Craniosynostosis: Likely Exclusion as the Loci of Origin.

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Genetic Evaluation for Craniofacial Conditions.

Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.

Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis.

Assessing the midface in Muenke syndrome: A cephalometric analysis and review of the literature.

Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes.

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.

Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.

Endoscopically assisted craniosynostosis surgery (EACS): The craniofacial team Nijmegen experience.

Ultrasound and MR imaging findings in prenatal diagnosis of craniosynostosis syndromes.

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.

Muenke syndrome: An international multicenter natural history study.

A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.

Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome.

GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.

[Cloverleaf skull and bilateral facial clefts].

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.

Executive Function and Adaptive Behavior in Muenke Syndrome.

Upward transtentorial herniation following frontoorbital advancement for syndromic craniosynostosis: case report.

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.