Crouzon Syndrome is an autosomal dominant syndromic craniosynostosis characterized by premature closure of cranial sutures, exophthalmos, and midface hypoplasia. It is caused by multiple mutations in the fibroblast growth factor receptor 2 (FGFR2). We describe prenatal genetic testing of FGFR2 in a fetus of a mother whose previous child had Crouzon Syndrome due to an apparently de novo mutation...

Crouzon syndrome is the most common syndrome among the craniosynostosis group. Crouzon syndrome accounts for about 4.8% of all of them. It commonly has autosomal dominant inheritance with complete penetrance and variable expressivity from subtle to severe forms and characterized by craniosynostosis, exophthalmos, and hypoplastic maxilla with relative mandibular prognathism. Mutation of the fibr...

INTRODUCTION Crouzon syndrome is an autosomal dominant genetic disease characterized by bicoronal craniosynostosis, exorbitism with hypertelorism, and maxillary hypoplasia with mandibular prognathism. CASE OUTLINE We present the first reported case of Crouzon syndrome associated with a bilateral con- genital cholesteatoma of the temporal bone and discuss about the potential pathogenesis. CO...

PURPOSE We present a case of bilateral extensive peripapillary myelinated retinal nerve fibers (MRNF) in an individual with Crouzon syndrome, an inherited form of craniosynostosis caused by overactivation of fibroblast growth factor receptor 2. As a secondary aim, we examine the utility of optical coherence tomography (OCT) angiography for visualization of peripapillary vasculature obscured by ...

Introduction: The Crouzon syndrome is a rare clinical condition that affects the craniofacial skeleton development. It accounts for about 4.8% of all the cases of craniosynostosis, and it is the most common syndrome presenting with craniosynostoses. The Crouzon syndrome’s early diagnosis is critical to avoid cranial hypertension as well as visual disturbances and blindness. Children who have Cr...

A difficult extubation!
 An 8 y old male child suffered from Crouzon syndrome, in whom intubation was perceived to be difficult, but extubation expected much more difficult. syndrome is a genetic disorder characterized by the premature fusion of skull bones (craniosynostosis). This early prevents growing normally and affects shape head face.

Crouzon Syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life...

Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have previously been identified in Crouzon syndrome, an autosomal dominant condition involving premature fusion of the cranial sutures. Several different missense and other mutations have been identified in Crouzon syndrome patients, clustering around the third immunoglobulin-like domain. We report here the identification of a mu...

Crouzon syndrome is a dominantly inherited disorder characterized by craniosynostosis and facial dysostosis, caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene; it belongs to a class of disorders that mostly arise as de novo mutations and exhibit a near-exclusive paternal origin of mutation and elevated paternal age ("paternal age effect"). However, even if this is the ...