Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait.
We describe a father-son Mexican pair with typical features of Schilbach-Rott syndrome (SRS): ocular hypotelorism, cleft palate, hypospadias (only in the child), and microcephaly. This observation documents for the first time a male to male transmission and therefore confirms that the SRS is inherited as an autosomal dominant trait with variable expressivity.
Becerra-Solano
L E
LE
División de Genètica, Centro de Investigación Biomèdica de Occidente-Instituto Mexicano del Seguro Social.
Casillas-Avila
M P
MP
Díaz-Rodríguez
M
M
Nastasi-Catanese
J A
JA
Toscano-Flores
J J
JJ
Ramírez-Dueñas
M L
ML
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002585:Cesarean Section; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009679:Nuclear Family; D015814:Ocular Hypotension / Q000235:genetics; D013577:Syndrome