Intrauterine death in megacystis-microcolon-intestinal hypoperistalsis syndrome.
نویسنده
چکیده
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.
منابع مشابه
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Associated With Prune Belly Syndrome: A Case Report
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome is a quite rare congenital anomaly that presents with a functional obstruction of the gastrointestinal tract which is usually fatal. It is three to four times more prevalent in females. We present a case of a rare association of a male neonate with Megacystis Microcolon Intestinal Hypoperistalsis Syndrome who in addition had the classica...
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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 کاملAn 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...
متن کاملMegacystis-microcolon-intestinal hypoperistalsis syndrome: confirmation of autosomal recessive inheritance.
We report two female sibs with the megacystis-microcolon-intestinal hypoperistalsis syndrome. The parents are first cousins. These cases, together with three other published reports of affected sibs, confirm the autosomal recessive inheritance of the syndrome.
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 25 5 شماره
صفحات -
تاریخ انتشار 1988