Jackson P, Kohler H G
J Med Genet. 1978 Jun;15(3):242-5. doi: 10.1136/jmg.15.3.242.
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.
一对巴基斯坦夫妇是隔了一代的堂亲，他们的父亲是堂兄弟，母亲也有亲属关系。这对夫妇育有两个存活产婴儿，一男一女。两个孩子均在出生后两小时内死亡，死因是枕部脑膨出、小头畸形、多囊肾和肝内胆管囊肿性扩张。两个孩子的染色体核型均正常。这些异常构成梅克尔综合征（内脏囊肿性脑发育不全）；这是关于父母近亲结婚导致该综合征的第五份报告，进一步支持了该疾病常染色体隐性遗传的证据。
