Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.
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.
Santos
H
H
Department of Pediatrics, Santa Maria Hospital, Lisbon, Portugal.
Mateus
J
J
Leal
M J
MJ
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*