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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1984 Jun;21(3):189–192. doi: 10.1136/jmg.21.3.189

Orofaciodigital syndrome with mesomelic limb shortening.

J Burn, C Dezateux, C M Hall, M Baraitser
PMCID: PMC1049264  PMID: 6748015

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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Selected References

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