Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families.
Two cases of Hirschsprung disease associated with infantile osteopetrosis are reported in 2 consanguineous families living in the same area. Both died early.
Dudin
A A
AA
Pediatric Department, Makassed Hospital, Jerusalem, Israel.
Rambaud-Cousson
A
A
D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D006627:Hirschsprung Disease / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010022:Osteopetrosis / Q000150:complications / Q000151:congenital / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome