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Case Reports
. 1984 Jun;21(3):189-92.
doi: 10.1136/jmg.21.3.189.

Orofaciodigital syndrome with mesomelic limb shortening

J Burn, C Dezateux, C M Hall, M Baraitser
Case Reports

Orofaciodigital syndrome with mesomelic limb shortening

J Burn et al. J Med Genet. 1984 Jun.

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.

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