title: Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait.
abstract: 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.
authors.affiliation: División de Genètica, Centro de Investigación Biomèdica de Occidente-Instituto Mexicano del Seguro Social.
authors.forename: L E
authors.initials: LE
authors.lastname: Becerra-Solano
authors.forename: M P
authors.initials: MP
authors.lastname: Casillas-Avila
authors.forename: M
authors.initials: M
authors.lastname: Díaz-Rodríguez
authors.forename: J A
authors.initials: JA
authors.lastname: Nastasi-Catanese
authors.forename: J J
authors.initials: JJ
authors.lastname: Toscano-Flores
authors.forename: M L
authors.initials: ML
authors.lastname: Ramírez-Dueñas
mesh_terms: 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