BACKGROUND AND PURPOSE: Jugular foraminal stenosis (JFS) or atresia (JFA) with
collateral emissary veins (EV) has been documented in syndromic craniosynostosis …

Background: The pattern of cranial venous drainage in syndromic craniosynostosis is
unpredictable and not adequately understood. Collateral channels substitute for stenotic …

Objective Venous hypertension is emerging as a significant contributor to intracranial
pressure in children with syndromic craniosysnostosis. This is associated with jugular …

Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It
leads not only to secondary distortion of skull shape but to various complications including …

Syndromic craniosynostose exhibit variable clinical and genetic heterogeneity. Many of this
disorders are caused by mutations in the fibroblast growth factor receptor genes: FGFR2 …

Background: Muenke-type craniosynostosis is defined as fibroblast growth factor receptor 3
(FGFR3)–associated coronal craniosynostosis with or without mental retardation. With …

Background Fibroblast growth factor receptor 2 mutations have been associated with the
craniosynostotic conditions of Apert, Crouzon, Pfeiffer, Saethre-Chotzen, Jackson-Weiss …

Purpose More than 60 different mutations have been identified to be causal in syndromic
forms of craniosynostosis. The majority of these mutations occur in the fibroblast growth …

BACKGROUND: Children with faciocraniosynostosis present skull base abnormalities and
may develop hydrocephalus or cerebellar tonsils ectopia (CTE). Several pathophysiological …

Disease characteristics. The eight disorders comprising the FGFR-related craniosynostosis
spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson …