Natural history of cardiac involvement in geleophysic dysplasia

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.