title: Meckel's syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs.
abstract: A Pakistani couple, who were first cousins once removed through their fathers, and whose mothers were also related, had two liveborn children, a boy and a girl. Both children died within 2 hours of birth with occipital encephalocele, microcephaly, polycystic kidneys, and cystic distension of intrahepatic bile ducts. Both children had normal karyotypes. These abnormalities constitute Meckel's syndrome (dysencephalia splanchno-cystica); this is the fifth report of parental consanguinity, adding further support to the evidence for autosomal recessive inheritance of the disorder.
mesh_terms: D003241:Consanguinity; D004677:Encephalocele / Q000235:genetics*; D004739:England; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010154:Pakistan; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000235:genetics*; D013577:Syndrome