The megacystis-microcolon-intestinal hypoperistalsis syndrome: a fatal autosomal recessive condition.
نویسندگان
چکیده
منابع مشابه
Megacystis-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 کاملMegacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a newborn female infant who presented with an abdominal mass, absent bowel sounds, and feeding intolerance with bilious emesis. MMIHS is a rare congenital bowel and bladder defect requiring surgery and chronic total parenteral nutrition in an attempt to sustain life. With few exceptions, it is predominately...
متن کاملMegacystis microcolon intestinal hypoperistalsis syndrome.
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. The major features of this congenital and usually lethal anomaly are abdominal distension, bile-stained vomiting, and absent or decreased bowel peristalsis. Abdominal distension is a consequence of the distended, unobstructed urinary bladder w...
متن کاملMegacystis-Microcolon-Intestinal Hypoperistalsis Syndrome (MMIHS).
Introduction Megacystismicrocolon -intestinal hypoperistalsis syndrome(MMIHS) also called as BERDON SYNDROME is a rare congenital disease characterized by massive abdominal distension caused by a largely dilated non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis. It poses a diagnostic and therapeutic challenge to the surgeon. It the most severe form of fun...
متن کاملMegacystis-Microcolon-Intestinal Hypoperistalsis Syndrome: A Case Report
Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is a quite rare congenital and fatal disease which was firstly defined by Berdon and his colleagues. It appears through a widely enlarged bladder and microcolon and its cause is unknown (Berdon et al., 1976; Carmelo et al., 2005; Makhija et al., 1999; Loening-Baucke and Kimura 1999; Redman et al., 1984; Hsu et al., 2003; Yigit et ...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1989
ISSN: 1468-6244
DOI: 10.1136/jmg.26.1.66