نتایج جستجو برای: megacystis
تعداد نتایج: 120 فیلتر نتایج به سال:
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...
Megacystis at 10-14 weeks of gestation: chromosomal defects and outcome according to bladder length.
AIMS To examine the prevalence of chromosomal defects and outcome of fetuses with megacystis at 10-14 weeks of gestation. METHODS At the 10-14-week scan fetal megacystis was defined by a longitudinal bladder diameter of 7 mm or more. In 145 such fetuses the fetal karyotype and pregnancy outcome were examined in relation to the longitudinal diameter of the fetal bladder. RESULTS Chromosomal ...
OBJECTIVE To determine the prevalence and outcome of fetuses with holoprosencephaly, exomphalos and megacystis diagnosed at 11-13 weeks of gestation. METHODS As part of a prospective screening study for trisomy 21 in singleton pregnancies at 11 + 0 to 13 + 6 weeks' gestation, transabdominal ultrasound examination was performed to diagnose holoprosencephaly, exomphalos and megacystis. Fetal ka...
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...
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>...
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...
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...
OBJECTIVES To examine the prevalence of alobar holoprosencephaly, exomphalos, megacystis and nuchal translucency thickness (NT) ≥ 3.5 mm, the incidence and types of chromosomal abnormalities associated with these conditions and their overall impact on the rate of invasive testing and performance of screening at 11-14 weeks. METHODS This was a prospective screening study for trisomies 21, 18 a...
A 1-day-old girl, late preterm (36 weeks 3 days) infant, was admitted to the neonatal intensive care unit for respiratory distress and megacystis seen on a prenatal ultrasound at 24 of gestation. babygram (anteroposterior view entire body) showed absence bowel gas, abdominal revealed grade 4 bilateral hydronephrosis. The patient subsequently diagnosed with megacystis-microcolon–intestinal hypop...
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