Orofaciodigital syndrome type IV: report of a patient.
We describe a further patient with the orofaciodigital syndrome type IV. The clinical characteristics include lobulated tongue, pseudo-cleft of lip, pre- and postaxial polydactyly of hands and feet, severe talipes equinovarus, mesomelic limb shortness associated with tibial hypoplasia, and severe bilateral deafness. Five similar cases including the present patient are now on record. Autosomal recessive inheritance is likely.
Nevin
N C
NC
Department of Medical Genetics, Queen's University of Belfast, Northern Ireland.
Thomas
P S
PS
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002971:Cleft Lip / Q000235:genetics; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009958:Orofaciodigital Syndromes / Q000175:diagnosis / Q000235:genetics*; D012307:Risk Factors