Meckel Gruber Syndrome

GAZZETTA MEDICA ITALIANA ARCHIVIO PER LE SCIENZE MEDICHE(2017)

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摘要
Meckel Gruber Syndrome is an autosomal recessive syndrome characterized by a wide variety of systemic malformations. It is a rare syndrome, the worldwide incidence varies from 1 in 13250 to 1 in 140000 live births. There is great diversity of malformations in this syndrome and it is almost always lethal. We present a case of a patient that had two inducted abortions for Meckel Gruber syndrome. The diagnosis was confirmed pathohystologicaly. She also had two normal term pregnancies. Adequate antenatal care results in early diagnosis of Meckel Gruber syndrome and prompt termination of pregnancy is required.
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关键词
Meckel syndrome type 1, Ultrasonography, Encephalocele, Polycystic kidney diseases, Polydactyly
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