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Madelung deformity as a pathognomonic feature of the onycho-osteodysplasia syndrome.

作者信息

Ioan D M, Maximilian C, Fryns J P

机构信息

Department of Clinical Genetics, Institute of Endocrinology, C.l. Parhon, Bucarest, Roumania.

出版信息

Genet Couns. 1992;3(1):25-9.

PMID:1590977
Abstract

On the occasion of the observation of the Onycho-osteo-dysplasia syndrome (HOOD syndrome--Nail-Patella syndrome) in a 4-generation family we were impressed by the presence of a Madelung deformity in the four examined family members. A critical review of the literature showed that a true Madelung deformity was present in a great number of previously reported patients but that no specific attention was given to this apparently important symptom.

摘要

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[Hereditary onycho-arthro-dysplasia].
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[Hereditary onycho-osteodysplasia (HOOD)].
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