Madelung deformity as a pathognomonic feature of the onycho-osteodysplasia syndrome.
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.
Ioan
D M
DM
Department of Clinical Genetics, Institute of Endocrinology, C.l. Parhon, Bucarest, Roumania.
Maximilian
C
C
Fryns
J P
JP
D000328:Adult; D004551:Elbow Joint / Q000002:abnormalities; D005260:Female; D006801:Humans; D009261:Nail-Patella Syndrome / Q000175:diagnosis / Q000235:genetics*; D009264:Nails, Malformed / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D014955:Wrist Joint / Q000002:abnormalities