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Natural history of cardiac involvement in geleophysic dysplasia

✍ Scribed by A. Scott; S. Yeung; D.F. Dickinson; G. Karbani; Y.J. Crow

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
121 KB
Volume
132A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

Geleophysic dysplasia is an autosomal recessive short‐limbed, dysmorphic syndrome. The condition is frequently associated with cardiac valvular disease, which may result in secondary hypertrophy and cardiac failure. We describe two distantly related Pakistani children with classical features of geleophysic dysplasia. Pulmonary stenosis was recognized in both within a few months of birth. The younger child shows no signs of cardiac decompensation at the age of 7 years whilst her older cousin has developed a significant pulmonary gradient requiring surgical intervention in the second decade of life. The natural history of his disorder highlights that the cardiac involvement seen in apparently stable forms of geleophysic dysplasia is frequently progressive. Β© 2004 Wiley‐Liss, Inc.

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