Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias.
We report on 3 individuals, a man and his son and daughter, who were born with preaxial deficiencies of the hands and feet and postaxial polydactyly of the hands. Both males also had glandular hypospadias. Certain of these findings resemble those found in the hand-foot-genital syndrome; however, we conclude that this family has a hitherto unreported autosomal dominant condition. Production by a single gene defect of preaxial deficiencies and postaxial polydactyly in the same individual is of note.
Guttmacher
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AE
Department of Pediatrics, University of Vermont College of Medicine, Burlington.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007223:Infant; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*