Fetal Megacystis
نویسندگان
چکیده
منابع مشابه
New Insights into the Genetics of Fetal Megacystis: ACTG2 Mutations, Encoding γ-2 Smooth Muscle Actin in Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (Berdon Syndrome).
OBJECTIVE To identify the molecular basis for prenatally suspected cases of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) (MIM 249210) in 3 independent families with clinical and radiographic evidence of MMIHS. METHODS Whole-exome sequencing (WES) and Sanger sequencing of the ACTG2 gene. RESULTS We identified a novel heterozygous de novo missense variant in ACTG2 c.770G>...
متن کاملDiagnosis of fetal megacystis with chromosomal abnormality by 2D prenatal ultrasound
RATIONALE The pathogenesis of fetal megacystis is divided into obstructive and nonobstructive. Megacystis combined with chromosomal abnormalities is rare and most of the cases are nonobstructive. PATIENT CONCERNS The fetus showed posterior urethral obstructive megacystis with features of bladder enlargement, "keyhole" feature, and thick bladder wall. DIAGNOSES Here, we present a case of fet...
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
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...
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ژورنال
عنوان ژورنال: Pediatrics & Therapeutics
سال: 2016
ISSN: 2161-0665
DOI: 10.4172/2161-0665.1000i116