Syndromic Craniosynostosis

James C. Wang, Laszlo Nagy, Joshua C. Demke*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

55 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)531-543
Number of pages13
JournalFacial plastic surgery clinics of North America
Volume24
Issue number4
DOIs
StatePublished - Nov 1 2016

Keywords

  • Apert syndrome
  • Craniofacial syndromes
  • Crouzon syndrome
  • FGFR mutations
  • Muenke syndrome
  • Pfeiffer syndrome
  • Saethre-Chotzen syndrome
  • Syndromic craniosynostosis

ASJC Scopus subject areas

  • Surgery

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