X‐linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males

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Abstract
We describe a family with clinical features of orofaciodigital (OFD) syndrome type 2 or Mohr syndrome, X-linked recessive inheritance and survival of affected males which has not previously been reported. Four affected males in three generations have survived into infancy and two female heterozygotes have very mild expression. Foetal ultrasonography enabled antenatal diagnosis.