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1.  Meckel's syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs. 
Journal of Medical Genetics  1978;15(3):242-245.
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.
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PMCID: PMC1013688  PMID: 671493

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