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Oto-onycho-peroneal syndrome: confirmation of a syndrome.


ABSTRACT: We report two sibs with a similar syndrome of abnormal external ears, peculiar facial features, nail hypoplasia, a bilateral fibrous fusion of the outer third of the clavicle and the scapular spine, and the absence of a normal acromioclavicular joint. The present patients represent the fourth and fifth cases of the oto-onycho-peroneal syndrome (MIM 259780).

SUBMITTER: Devriendt K 

PROVIDER: S-EPMC1051348 | biostudies-literature | 1998 Jun

REPOSITORIES: biostudies-literature

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Oto-onycho-peroneal syndrome: confirmation of a syndrome.

Devriendt K K   Stoffelen D D   Pfeiffer R R   Leys A A   Fryns J P JP  

Journal of medical genetics 19980601 6


We report two sibs with a similar syndrome of abnormal external ears, peculiar facial features, nail hypoplasia, a bilateral fibrous fusion of the outer third of the clavicle and the scapular spine, and the absence of a normal acromioclavicular joint. The present patients represent the fourth and fifth cases of the oto-onycho-peroneal syndrome (MIM 259780). ...[more]

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