1.
Genet Couns
; 18(3): 317-23, 2007.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18019373
RESUMO
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.