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  • Title: Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.
    Author: Santos H, Mateus J, Leal MJ.
    Journal: J Med Genet; 1988 Mar; 25(3):204-5. PubMed ID: 3351909.
    Abstract:
    An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is suggested that this might represent a new autosomal recessive syndrome.
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