Orofaciodigital syndrome with mesomelic limb shortening. Issue 3 (June 1984)

• Record Type: Journal Article
• Authors: Burn, J; Dezateux, C; Hall, C M; Baraitser, M
• Is Part Of: Journal of medical genetics. Volume 21:Issue 3(1984)
• Page Start: 189
• Page End: 192
• Publication Date: 1984-06
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.21.3.189
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia. Homozygosity for a recessive gene defect is probable. The phenotype resembles, but is distinct from, the orofaciodigital syndromes delineated to date. We suggest that this condition be labelled OFD IV.