Koiffmann C P, Wajntal A, Ursich M J, Pupo A A
Am J Med Genet. 1984 Nov;19(3):483-6. doi: 10.1002/ajmg.1320190309.
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.