Familial recurrence of geleophysic dysplasia.
作者信息
Koiffmann C P, Wajntal A, Ursich M J, Pupo A A
出版信息
Am J Med Genet. 1984 Nov;19(3):483-6. doi: 10.1002/ajmg.1320190309.
PMID:6507494
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.
摘要
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RETRACTED ARTICLE: Acromicric dysplasia and geleophysic dysplasia: similarities and differences.
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