Familial recurrence of geleophysic dysplasia.
We describe a girl with the manifestations of geleophysic dwarfism: small stature, a peculiar but pleasant and good-natured facial appearance, a dysostosis-multiplex-like bone dysplasia affecting predominantly hands and feet, hepatomegaly and stenosis, and insufficiency of the aortic valve. The proposita's sister died of heart failure at 3 years and was reported by the mother to have been a tiny child with small hands.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D003878:Dermatoglyphics; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital; D006228:Hand Deformities, Congenital; D006801:Humans; D013577:Syndrome