Literature DB >> 9220188

The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.

Y Hilhorst-Hofstee1, P M Watkin, C M Hall, M Baraitser.   

Abstract

A family is reported with conductive hearing loss, hyperopia, broad thumbs and broad first toes. The family resembles a previous reported family (Teunissen B, Cremers CWRJ (1990) Laryngoscope 100: 380-384) but additionally all affected members have a typical face. Overlap of the Teunissen and Cremers syndrome with the facio-audio-symphalangism syndrome and proximal symphalangism is discussed.

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Year:  1997        PMID： 9220188     DOI： 10.1097/00019605-199707000-00001

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  2 in total

1.  Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.

Authors:  David J Brown; Theresa B Kim; Elizabeth M Petty; Catherine A Downs; Donna M Martin; Peter J Strouse; Sayoko E Moroi; Jeff M Milunsky; Marci M Lesperance
Journal:  Am J Hum Genet       Date:  2002-06-27       Impact factor: 11.025

2.  Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.

Authors:  Rong Yu; Hongqun Jiang; Huihuang Liao; Wugen Luo
Journal:  BMC Med Genomics       Date:  2020-12-11       Impact factor: 3.063
  2 in total

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