title: A syndrome of brachyphalangy, polydactyly and absent tibiae.
abstract: We report two unrelated children with a new syndrome consisting of polydactyly and tibial aplasia in the lower limbs. severe brachyphalangy in the hands, malformed ears and a micropenis.
authors.affiliation: Department of Clinical Genetics, Institute of Child Health, London, UK.
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
authors.forename: F
authors.initials: F
authors.lastname: Stewart
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
authors.forename: C M
authors.initials: CM
authors.lastname: Hall
authors.forename: S
authors.initials: S
authors.lastname: Herman
authors.forename: N C
authors.initials: NC
authors.lastname: Nevin
mesh_terms: D000015:Abnormalities, Multiple; D004423:Ear / Q000002:abnormalities; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007569:Jaw Abnormalities / Q000473:pathology; D008297:Male; D010413:Penis / Q000002:abnormalities; D017689:Polydactyly / Q000473:pathology*; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities*