Understanding the molecular basis of Apert syndrome - PubMed (original) (raw)
Review
. 2005 Jan;115(1):264-70.
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- PMID: 15622262
Review
Understanding the molecular basis of Apert syndrome
Omar A Ibrahimi et al. Plast Reconstr Surg. 2005 Jan.
Abstract
Apert syndrome, first described in 1906, is one of the most severe of the craniosynostosis syndromes and is further characterized by midface hypoplasia, syndactyly, and other visceral abnormalities. Affected individuals generally require lifelong management by a multidisciplinary team of health care specialists. Apert syndrome results almost exclusively from one or the other of two point mutations in fibroblast growth factor receptor 2. Tremendous scientific advances have been made recently in understanding the molecular basis for Apert syndrome through clinical genetic, biochemical, and structural approaches. In this review, the authors provide the clinician with a basic overview of these findings and their therapeutic implications.
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