Syndromic Craniosynostosis

Abstract

Syndromic craniosynostosis affects up to 1:30,000 live births with characteristic craniofacial growth restrictions, deformities, and other associated abnormalities, such as carpal-pedal anomalies and cognitive function impairment. More than 150 syndromes are associated with craniosynostosis. This article describes some commonalities and distinguishing features and management of syndromic synostosis. Also addressed is secondary synostosis, which is often found in syndromic children with problems related to microcephaly, hydrocephalus, or shunt-induced craniosynostosis, although pathophysiologically and genetically different. The importance of obtaining a thorough history and a complete physical and examination is highlighted. Adjuvant testing and multidisciplinary management are discussed.

Syndromic Craniosynostosis: Complexities of Clinical Care

“…Crouzon syndrome management is targeted by age, with early issues of the triad above and similar maneuvers employed to manage the airway [Wang et al 2016;Taylor and Bartlett, 2017].…”

What is your diagnosis?

“…Facial dysmorphism and related abnormalities in craniosynostosis depend upon which and how many of the cranial sutures fuse prematurely. Even after premature fusion of the sutures, which may occur in utero or after birth, the brain continues to grow along the plane of the remaining open sutures and the pressure gives an abnormal appearance and shape to the skull ( 3 , 4 , 5 ). Crouzon syndrome is most commonly associated with bi-coronal synostosis that gives the typical brachycephaly.…”

Interdisziplinäre Behandlung von Patienten mit angeborenen Fehlbildungen – Zusammenhang zwischen Dysfunktion und Dysgnathie

“…B. als Apert-oder Crouzon-Syndrom. Aktuell sind etwa 150 Syndrome mit Schädelnahtsynostosen bekannt [4].…”