title: Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome?
abstract: A father and two sons with blepharophimosis, ptosis, polythelia and brachydactyly are presented, apparently without other abnormalities. The features do not fit into any previously described syndrome. This condition may represent a hitherto undescribed syndrome, although resemblance with the blepharophimosis-ptosis-epicanthus inversus syndrome exists. Inheritance is probably autosomal dominant.
authors.affiliation: F.C. Donders Institute of Ophthalmology, University Hospital Utrecht, The Netherlands.
authors.forename: D
authors.initials: D
authors.lastname: Wittebol-Post
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D000328:Adult; D016569:Blepharophimosis / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002648:Child; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D009558:Nipples / Q000002:abnormalities*; D011859:Radiography; D013577:Syndrome