2. Academic Validation
  3. The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia

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

  • Clin Dysmorphol. 1997 Jul;6(3):195-203. doi: 10.1097/00019605-199707000-00001.
Y Hilhorst-Hofstee 1,  P M Watkin,  C M Hall,  M Baraitser
Affiliations

Affiliation

  • 1 Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
PMID: 9220188 DOI: 10.1097/00019605-199707000-00001
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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