title: An osteosclerotic form of Robinow syndrome.
abstract: Robinow syndrome (RS) is a clinically and genetically heterogenous condition primarily characterized by short stature, mesomelia, genital hypoplasia, oral abnormalities, and a facial gestalt that includes hypertelorism, a short nose, and a broad mouth. The disorder exists in both a dominant and a more severe recessive form. Here two unrelated cases of sporadic RS are described with the additional finding of axial and appendicular osteosclerosis. These two patients, coupled with three additional patients previously described in the literature, may represent a distinct sub-phenotype of this condition.
authors.affiliation: Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
authors.forename: Kieran J
authors.initials: KJ
authors.lastname: Bunn
authors.forename: Angeline
authors.initials: A
authors.lastname: Lai
authors.forename: Azza
authors.initials: A
authors.lastname: Al-Ani
authors.forename: Mauro
authors.initials: M
authors.lastname: Farella
authors.forename: Susan
authors.initials: S
authors.lastname: Craw
authors.forename: Stephen P
authors.initials: SP
authors.lastname: Robertson
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D010026:Osteosclerosis / Q000235:genetics*; D010641:Phenotype; D014564:Urogenital Abnormalities / Q000235:genetics*
keywords: Robinow syndrome; hyperosteosis; oligodontia; osteosclerosis