Ocular hypotelorism, submucosal cleft palate, and hypospadias: a new autosomal dominant syndrome.
A syndrome characterized by ocular hypotelorism, submucosal cleft palate, and hypospadias in males was found in ten relatives over five generations of a family. Other anomalies are blepharophimosis, upslant of palpebral fissures, and a tendency to cutaneous syndactyly of 3rd and 4th fingers as well as 2nd and 3rd toes. Autosomal dominant inheritance is likely.
Schilbach
U
U
Institut für Humangenetik, Friedrich-Alexander-Universität, Erlangen-Nümberg, Federal Republic of Germany.
Rott
H D
HD
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000886:Anthropometry; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics*; D003878:Dermatoglyphics; D005124:Eye Abnormalities; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007223:Infant; D008297:Male; D010375:Pedigree