Craniosynostosis, the fusion of one or more of the sutures of the skull vault before the brain completes its growth, is a common (1 in 2,500 births) craniofacial abnormality, approximately 20% of which occurrences are caused by gain-of-function mutations in FGF receptors (FGFRs). We describe a genetic and pharmacological approach for the treatment of a murine model system of Crouzon-like cranio...

Costello syndrome is characterised by high birth weight, early psychomotor and growth retardation, cardiomyopathy, relative macrocephaly, coarse face, and laxity of the small joints. Skin abnormalities include nasal and perianal papillomata, acanthosis nigricans, cutis laxa, and curly and sparse scalp hair. 2 Increased paternal age and sporadic occurrence have suggested autosomal dominant de no...

Almost 50% of patients with Apert, Crouzon or Pfeiffer syndrome develop obstructive sleep apnea (OSA), mainly due to midface hypoplasia. Midface advancement is often the treatment of choice, but the few papers on long-term outcome report mixed results. This paper aimed to assess the long-term respiratory outcome of midface advancement in syndromic craniosynostosis with OSA and to determine fact...

Mutations in fibroblast growth factor receptor (FGFR) 2 are responsible for several clinically distinct craniosynostosis syndromes in humans (Naski and Ornitz, 1998; Ornitz and Marie, 2002; Wilkie, 1997). These syndromes share a common feature; premature fusion of at least one of the cranial sutures. However, craniosynostosis syndromes also have distinct facial features and some have characteri...

BACKGROUND The purpose of this study was to confirm the utility of a corrected cephalometric analysis to facilitate the planning of distraction osteogenesis with Le Fort III osteotomy for syndromic craniosynostosis. METHODS This prospective study involved 4 male and 2 female patients (mean patient age, 8 years 9 months; age range, 4 years 6 months to 13 years 2 months) with Crouzon syndrome w...