Cleft palate, hypotelorism, and hypospadias: Schilbach-Rott syndrome.
A mother and two sons have cleft palate and facial appearance closely resembling cases described by Schilbach and Rott in 1988. One of the two males has hypospadias and learning disability and, like his mother, is of short stature. The family described by Schilbach and Rott also supports an autosomal dominant inheritance pattern.
Joss
S K
SK
Duncan Guthrie Institute of Medical Genetics, Royal Hospital For Sick Children, Yorkhill, Glasgow, Scotland. shelagh.joss@yorkhill.scot.nhs.uk
Paterson
W
W
Donaldson
M D C
MD
Tolmie
J L
JL
D000293:Adolescent; D000328:Adult; D001827:Body Height / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics*; D000013:Congenital Abnormalities / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D008297:Male; D009679:Nuclear Family