Meckel's syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs.
Open Access
- 1 June 1978
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 15 (3) , 242-245
- https://doi.org/10.1136/jmg.15.3.242
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.Keywords
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