title: Brachydactyly type A1 with short humerus and associated skeletal features.
abstract: We report on a three-generation family affected with an osteochondrodysplasia transmitted as an autosomal dominant trait. The phenotype consists of short humerus, curved radius with accessory ossification centre at the proximal third of ulna, variable short stature and brachydactyly, and has not been reported to the best of our knowledge. The brachydactyly falls into the brachydactyly A1 category (especially short 2nd, 4th, and 5th middle phalanges). A unique feature in one family member is triphalangeal thumbs. Vertebrae are normal. Mental development is normal and deafness is seen in some of the family members. A mutation was excluded by sequencing the entire coding regions of the IHH gene encoding the Indian Hedgehog protein and the GDF5 gene. This condition is a novel chondrodyplasia phenotype or possibly one end of the spectrum of the brachydactyly A1.
authors.affiliation: Department Genetics, CHU Bordeaux, Université Bordeaux 2, Bordeaux Cedex, France. didier.lacombe@chu-bordeaux.fr
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Marie-Ange
authors.initials: MA
authors.lastname: Delrue
authors.forename: Caroline
authors.initials: C
authors.lastname: Rooryck
authors.forename: Fanny
authors.initials: F
authors.lastname: Morice-Picard
authors.forename: Benoît
authors.initials: B
authors.lastname: Arveiler
authors.forename: Brigitte
authors.initials: B
authors.lastname: Maugey-Laulom
authors.forename: Stefan
authors.initials: S
authors.lastname: Mundlos
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Chateil
mesh_terms: D000328:Adult; D005260:Female; D005799:Genes, Dominant; D055428:Growth Differentiation Factor 5 / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D053823:Hedgehog Proteins / Q000235:genetics; D006801:Humans; D006811:Humerus / Q000002:abnormalities*; D007223:Infant; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011859:Radiography
chemical_list: C525893:GDF5 protein, human; D055428:Growth Differentiation Factor 5; D053823:Hedgehog Proteins