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Megacystis-microcolon-intestinal hypoperistalsis syndrome: the difficulties with antenatal diagnosis. Case report and review of the literature

✍ Scribed by S. M. White; P. Chamberlain; R. Hitchcock; P. B. Sullivan; P. A. Boyd

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
84 KB
Volume
20
Category
Article
ISSN
0197-3851

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✦ Synopsis

Megacystis on antenatal scan in female fetuses is rare and has serious diagnostic implications. We report two cases of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in female infants in whom antenatal scan abnormalities were identi®ed, but the diagnosis not made until after delivery. MMIHS is a rare autosomal recessive condition which is usually lethal in the ®rst year of life. Prenatal diagnosis is hampered by the lack of speci®c diagnostic ®ndings on ultrasound and the absence of an identi®ed genetic locus. The prenatal ®ndings in MMIHS are reviewed and contrasted with those of other causes of lower abdominal masses on antenatal ultrasound.

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