title: Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.
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.
authors.affiliation: Department of Pediatrics, Santa Maria Hospital, Lisbon, Portugal.
authors.forename: H
authors.initials: H
authors.lastname: Santos
authors.forename: J
authors.initials: J
authors.lastname: Mateus
authors.forename: M J
authors.initials: MJ
authors.lastname: Leal
mesh_terms: D001848:Bone Diseases, Developmental / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D003638:Deafness / Q000151:congenital*; D005260:Female; D005808:Genes, Recessive; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*