title: Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature.
abstract: We report on 3 unrelated patients with a syndrome of sensorineural deafness (3/3), midface hypoplasia (3/3), disproportionate shortness with short limbs (3/3), cleft palate or bifid uvula (3/3), and lack of high myopia (3/3). This brings the number of reported patients with this condition to 11. Different names such as oto-spondylo-megaepiphyseal dysplasia (OSMED) or the Insley-Astley syndrome have been used. We propose the name "syndrome of bone dysplasia, midface hypoplasia, and deafness" which lists the 3 main manifestations of the condition.
authors: Department of Medical Genetics, University of Helsinki, Finland.
authors: H
authors: H
authors: Kääriäinen
authors: M
authors: M
authors: Barrow
authors: R
authors: R
authors: Hennekam
mesh_terms: D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D013577:Syndrome