Article
[Presentation of two cases of Crouzon syndrome: allelic cranio-stenotic conditions of FGFR genes].
Anales de pediatria (Barcelona, Spain : 2003) - 1 Oct 2012
Vidal Sanahuja R, Gean Molins E, Sánchez Garré C, Quilis Esquerra J, García Fructuoso G, Costa Clara J M
Abstract excerpt
INTRODUCTION: Craniosynostosis is an abnormal and premature fusion of any cranial suture. Twenty per cent of them involve any specific syndrome with Mendelian transmission; the other 80% are "non syndromic", although but 10-14% of them are genetically transmitted. Using the experience of two patients with Crouzon syndrome, a clinical and genetic review is performed. PATIENTS AND METHODS: Patient 1: girl of 35...
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