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Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

✍ Scribed by Emma McCann; Stephen B. Kaye; William Newman; Gail Norbury; Graeme C.M. Black; Ian H. Ellis

Book ID: 101451922
Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 168 KB
Volume: 138A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30944

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✦ Synopsis

Abstract

Fibroblast growth factor receptor 2 (FGFR2) mutations are associated with syndromic and non‐syndromic craniosynostoses. More recently it has been recognized that FGFR2 may have a role in the development of the anterior chamber of the eye following the finding of a specific FGFR2 mutation (p.Ser351Cys, c.1231 C → G) with anterior chamber dysgenesis. Affected patients had a severe craniofacial phenotype and clinical course. A child with a different FGFR2 mutation (p.Ala344Ala, c1032 G → A heterozygote), premature fusion of the sagittal suture, and an Axenfeld–Rieger anomaly but otherwise normal clinical course is reported. The case provides further evidence that FGFR2 has a role in anterior chamber embryogenesis. © 2005 Wiley‐Liss, Inc.

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