Literature DB >> 9643295

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

K Devriendt1, D Stoffelen, R Pfeiffer, A Leys, J P Fryns.   

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).

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Year:  1998        PMID: 9643295      PMCID: PMC1051348          DOI: 10.1136/jmg.35.6.508

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  2 in total

1.  Oculootonasal malformations associated with osteoonychodysplasia.

Authors:  S Leiba; M Grünebaum; H Savir; A Ber
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  The oto-onycho-peroneal syndrome. A probably new genetic entity.

Authors:  R A Pfeiffer
Journal:  Eur J Pediatr       Date:  1982-07       Impact factor: 3.183

  2 in total

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