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 |
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Hauptverfasser: | , , , |
Format: | Artikel |
Sprache: | eng |
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Online-Zugang: | Volltext |
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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. |
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ISSN: | 0148-7299 1096-8628 |
DOI: | 10.1002/ajmg.1320190309 |