title: The scapula as a window to the diagnosis of skeletal dysplasias.
abstract: Evaluation of the scapula can be useful in the diagnosis of skeletal dysplasias and helpful for the classification and delineation of new entities. A review of 2100 computerized cases of skeletal dysplasias in the International Skeletal Dysplasia Registry was performed. We found that the Luton type of platyspondylic lethal skeletal dysplasia differed radiographically from the San Diego type and Torrance type by the presence of two spikes at the inferior angle of the scapula. Hypoplasia of the body of the scapula, which is characteristic for campomelic dysplasia but not for kyphomelic dysplasia, is also present in Antley-Bixler syndrome. Radiographic and clinical similarities between campomelic dysplasia and Antley-Bixler syndrome suggest that they might be related disorders and that the latter condition should be included in the bent-bone dysplasia group. Similarity between the metaphyseal regions of the scapula and the metaphyses of the long tubular bones in the different types of short-rib polydactyly syndrome illustrates the importance of evaluation of the scapula in this group as well as in other well-defined or unknown osteochondrodysplasias.
authors.affiliation: Department of Medical Genetics, University Hospital of Gent, De Pintelaan 185, B-9000 Gent, Belgium.
authors.forename: G R
authors.initials: GR
authors.lastname: Mortier
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: R S
authors.initials: RS
authors.lastname: Lachman
mesh_terms: D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging* / Q000196:embryology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D012540:Scapula / Q000000981:diagnostic imaging*; D012779:Short Rib-Polydactyly Syndrome / Q000000981:diagnostic imaging; D013796:Thanatophoric Dysplasia / Q000000981:diagnostic imaging