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  • Title: Schilbach-Rott syndrome in a third family: further delineation of an autosomal dominant trait.
    Author: Becerra-Solano LE, Casillas-Avila MP, Díaz-Rodríguez M, Nastasi-Catanese JA, Toscano-Flores JJ, Ramírez-Dueñas ML.
    Journal: Genet Couns; 2007; 18(3):317-23. PubMed ID: 18019373.
    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.
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