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. 1991 Oct;28(10):691–694. doi: 10.1136/jmg.28.10.691

A male with type I orofaciodigital syndrome.

J Goodship 1, J Platt 1, R Smith 1, J Burn 1
PMCID: PMC1017056  PMID: 1941964

Abstract

We describe a three generation family with three females showing minor features of orofaciodigital syndrome type I and a severely affected male in the third generation. In addition to the classical features of OFD I, the male had bilateral duplication of the halluces, a feature diagnostic of OFD II, and an atrioventricular septal defect. Heart defects have not previously been reported in OFD I but have been reported in OFD II. It is important to examine the mothers of all male neonates with orofaciodigital syndrome with care before making a diagnosis of OFD II.

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Selected References

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