Syndromic craniosynostosis encompasses an array of diagnoses and genetic mutations that
affect the cranial vault, with additional anomalies in embryologically distinct anatomic sites …

In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this
discovery, the genetic causes of the most common syndromes have been described. In …

Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet
its genetic etiology remains unknown. We perform whole-exome or genome sequencing of …

Congenital hydrocephalus (CH), featuring markedly enlarged brain ventricles, is thought to
arise from failed cerebrospinal fluid (CSF) homeostasis and is treated with lifelong surgical …

Although de novo mutations (DNMs) are known to increase an individual's risk of congenital
defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the …

Normal vascular development includes the formation and specification of arteries, veins, and
intervening capillaries. Vein of Galen malformations (VOGMs) are among the most common …

Occurring once in every 2000 live births, craniosynostosis is one of the most frequent
congenital anomalies encountered by the craniofacial surgeon. Syndromic …

De novo mutations (DNMs) significantly contribute to sporadic diseases, particularly in
neuropsychiatric disorders. Whole-exome sequencing (WES) and whole-genome …

Craniosynostosis (CS) is the most common congenital cranial anomaly. Several Mendelian
forms of syndromic CS are well described, but a genetic etiology remains elusive in a …

SMAD6 encodes an intracellular inhibitor of the bone morphogenetic protein (BMP)
signalling pathway. Until now, SMAD6-deficiency has been associated with three distinctive …