726 Leri-Weill Dyschondrosteosis - A Case of Complete Deletion of One of the Copies of Shox Gene

Introduction Leri-Weill dyschondrosteosis (LWD), is a dominantly inherited skeletal dysplasia with disproportionate short stature owing to mesomelic shortening of the forearm and lower leg and Madelung deformity of the arm is found in 74% of children. SHOX mutations is found in 70% of cases. Case Re...

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Veröffentlicht in:	Archives of disease in childhood 2012-10, Vol.97 (Suppl 2), p.A209-A209
Hauptverfasser:	Marques, J Sales, Pais, AI Pinto, Ferraz, L
Format:	Artikel
Sprache:	eng
Schlagworte:	Genetic screening Genetics Medical Evaluation Mothers Physical Examinations
Online-Zugang:	Volltext
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