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‐multiplexlike bone dysplasia affecting predominantly hands and feet, hepatomegaly and stenosis, and insufficiency of the aortic valve. The propo...

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Veröffentlicht in:American journal of medical genetics 1984-11, Vol.19 (3), p.483-486
Hauptverfasser: Koiffmann, C. P., Wajntal, A., Ursich, M. J. M., Pupo, A. A.
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Sprache:eng
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Zusammenfassung:We describe a girl with the manifestations of geleophysic dwarfism: small stature, a peculiar but pleasant and good‐natured facial appearance, a dysostosis‐multiplexlike 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.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320190309