title: The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia.
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.
authors.affiliation: Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
authors.forename: Y
authors.initials: Y
authors.lastname: Hilhorst-Hofstee
authors.forename: P M
authors.initials: PM
authors.lastname: Watkin
authors.forename: C M
authors.initials: CM
authors.lastname: Hall
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006314:Hearing Loss, Conductive / Q000235:genetics; D006801:Humans; D006956:Hyperopia / Q000235:genetics*; D008297:Male; D009666:Nose / Q000002:abnormalities; D010375:Pedigree; D013199:Stapes / Q000002:abnormalities*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*