Literature DB >> 1592563

Shoulder abnormalities in association with branchio-oto-renal dysplasia in a patient who also has familial joint laxity.

B H Pennie1, H A Marres.   

Abstract

A patient with branchio-oto-renal dysplasia and associated shoulder abnormalities is presented. The combination of features makes discrimination from the oto-facial-cervical syndrome difficult. Shoulder abnormalities should be regarded as a rare feature of the branchio-oto-renal syndrome.

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Mesh：

Year:  1992        PMID： 1592563     DOI： 10.1016/0165-5876(92)90109-3

Source DB:  PubMed          Journal:  Int J Pediatr Otorhinolaryngol        ISSN： 0165-5876            Impact factor:   1.675


  2 in total

1.  Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.

Authors:  S Kumar; K Deffenbacher; H A Marres; C W Cremers; W J Kimberling
Journal:  Am J Hum Genet       Date:  2000-04-03       Impact factor: 11.025

2.  Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome.

Authors:  B Dallapiccola; R Mingarelli
Journal:  J Med Genet       Date:  1995-10       Impact factor: 6.318
  2 in total

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