| Literature DB >> 8267013 |
W Reardon1, C M Hall, S Slaney, S M Huson, J Connell, N al-Hilaly, J Fixsen, M Baraitser, R M Winter.
Abstract
We report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities.Entities:
Mesh:
Year: 1993 PMID: 8267013 DOI: 10.1002/ajmg.1320470537
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299