| Literature DB >> 6507494 |
C P Koiffmann, A Wajntal, M J Ursich, A A Pupo.
Abstract
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.Entities:
Mesh:
Year: 1984 PMID: 6507494 DOI: 10.1002/ajmg.1320190309
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299