Prenatal diagnosis of the megacystis-microcolon-intestinal hypoperistalsis syndrome.
نویسندگان
چکیده
The ultrasonographic and necropsy findings in a male fetus with the megacystis-microcolon-intestinal hypoperistalsis syndrome are reported. The presence of vacuolation and degeneration in smooth muscle of bowel and bladder wall supports a previous suggestion that the macroscopic findings in this syndrome are the consequence of an underlying visceral myopathy. The unusual degree of severity of the findings in this fetus may explain the marked skewing of the sex ratio observed in affected liveborn infants.
منابع مشابه
An unusual urinary tract presentation in a case of megacystis microcolon intestinal hypoperistalsis syndrome.
Megacystis microcolon intestinal hypoperistalsis syndrome is a rare congenital anomaly. Several pathogeneses have been described so far, but there is no single mechanism that can explain all the findings of the syndrome. Affected newborns usually present clinically in the first few days of life. The mainstay of diagnosis is a pre or a postnatal imaging evaluation using ultrasound or magnetic re...
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Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is now a well established entity [1,2]. Also known as Berdon syndrome [1], it is characterized by massive abdominal distension caused by a largely dilated non obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis. Isolated cases of congenital megacystis [3,4] and microcolon without megacystis [5] h...
متن کاملIntrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome.
Megacystis-microcolon-intestinal hypoperistalsis syndrome is an uncommon condition, possibly inherited as an autosomal recessive trait. This report describes an affected sib pair with intrauterine death of one of the sibs.
متن کاملA Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Background. A novel mutation in the ACTG2 gene is described in a pregnant patient followed up for chronic intestinal pseudoobstruction (CIPO) during pregnancy and her fetus with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). Case. 24-year-old gravida 1 para 1 with CIPO and persistent nausea and vomiting in pregnancy, admitted at 28 weeks of gestation. Ultrasound revealed a f...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 26 6 شماره
صفحات -
تاریخ انتشار 1989