The oro-facial-digital syndrome.
Two patients, a mother and her daughter, are presented who manifest the clinical features of the oro-facial-digital syndrome (OFD I). Many of these features are shared with Mohr's syndrome (OFD II). Confusion arises when a patient presents with features common to both syndromes. The features which are always or sometimes associated with these syndromes are tabulated. The Tables also show which abnormalities are common to both syndromes and to our cases. Additional clinical and radiological features which have not been considered part of these syndromes are described. We present these cases to suggest that these syndromes should be "lumped" together as one syndrome. We propose expanding this syndrome to include ear and renal abnormalities. Our cases follow an X-linked dominant inheritance pattern and, therefore, do not help determine the genetic controversy of these two syndromes.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D002971:Cleft Lip; D005149:Facial Expression; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006869:Hydronephrosis / Q000235:genetics; D009958:Orofaciodigital Syndromes / Q000235:genetics*; D012730:Sex Chromosomes; D014059:Tongue / Q000002:abnormalities