Search results for "Omphalocele"
showing 7 items of 7 documents
Small omphalocele with umbilical evagination of the bladder: a distinct entity?
2006
A neonatal case of umbilical evagination of the bladder combined with a small omphalocele is presented. This rare congenital malformation has previously been described in only three cases. Umbilical evagination can be understood as a disturbance of development of both the vitelline and allantoic ducts, resulting in a non-descended but otherwise normal bladder opening to the inferior margin of a small omphalocele. Diagnosis is made by clinical inspection and ultrasound. Since other malformations are not present, this entity may be regarded as a minor form of a lower midline defect with excellent prognosis.
Spectrum of congenital anomalies in pregnancies with pregestational diabetes
2012
BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies. METHODS: Data from 18 population-based EUROCAT registries of congenital anomalies in 1990-2005. All malformed cases occurring to mothers with pregestational diabetes (diabetes cases) were compared to all malformed cases in the same registry areas to mothers without diabetes (non-diabetes cases). RESULTS: There were 669 diabetes cases and 92,976 non diabetes cases. Odds ratios in diabetes pregnancies re…
Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity
2001
In 1988 Greenberg et al. reported an association of fetal hydrops with irregular calcification and moth-eaten skeletal dysplasia. Here, we report on the first case of this disorder accompanied by additional malformations (omphalocele, intestinal malrotation, disturbed fingernails and toes, hypolobated lungs) in a German couple without consanguinity (karyotype 46,XY). Sonograpically, the fetus was characterised by tetraphokomelia, severe generalised hydrops, pulmonal hypoplasia and hepato-splenomegaly. Greenberg dysplasia should be considered in differential diagnosis in cases with severe fetal hydrops and phokomelia on antenatal sonography.
Intraoperative vascular assessment for estimation of risk in primary closure of omphalocele and gastroschisis.
2013
Surgical repair of anterior abdominal wall defects is often complicated by a discrepancy between the eviscerated organs and the intra-abdominal space available. Primary closure of the abdominal wall may result in increased intra-abdominal pressure and consecutive circulatory impairment. We report the results of a retrospective and consecutive prospective study evaluating the influence of different witameters on mortality and morbidity in children with gastroschitis and omphalocele. Both studies demonstrated that real-time sonographic investigations, intraoperative Doppler duplex sonography, and colour-coded Doppler sonography provide the oppurtunity to collect objective intraoperative data.…
A girl with inverted triplication of chromosome 3q25.3 → q29 and multiple congenital anomalies consistent with 3q duplication syndrome
2005
We report a newborn girl with intrachromosomal triplication of 3q25.3 --> q29 (mosaicism) who died at the age of 3.5 weeks due to her malformations. She demonstrated disproportionate short stature with short limbs, a prominent and hairy forehead, thick eyebrows, synophrys, small upturned nose, full cheeks, micrognathia, and low set malformed and posteriorly rotated ears, short and webbed neck, hydrocephalus, Dandy-Walker malformation, spina bifida, complex heart defect (ventricular and atrial septal defect, malrotation, and interrupted aortic arch), omphalocele, polycystic kidneys, postaxial polydactyly of left hand, and generalized hirsutism; all signs have been associated with the dup(3q)…
Abdominal wall defects: two- versus three-dimensional ultrasonographic diagnosis.
2001
We diagnosed 12 cases of abdominal wall defects. The cases diagnosed occurred in 6 fetuses with omphalocele, 3 with gastroschisis, 2 with prune-belly syndrome, and 1 with pentalogy of Cantrell. Except for 1 case of gastroschisis first diagnosed on the basis of three-dimensional ultrasonography at 14 weeks' gestation, all cases were first detected by two-dimensional transabdominal ultrasonography and then reevaluated with three-dimensional ultrasonography using multiplanar and orthogonal plane modes. Although the original diagnosis was accurate on the basis of two-dimensional ultrasonography in 11 of 12 cases, additional information was obtained by three-dimensional scanning in all cases. Ou…
Treatment of congenital abdominal wall defects —a 25-year review of 132 patients
2013
The outcome data of 132 patients treated at the Department of Pediatric Surgery in Mainz during the last 25 years were reviewed. Prenatal diagnosis of abdominal wall defects (AWDs) and associated malformations led to increasing selection of the patient population. The aim of primary closure of the abdominal wall can be achieved more frequently in gastroschisis (GS) than omphalocele (OC), while the postoperative course is more complicated and of longer duration in GS. Delayed or secondary closure extended the hospitalization period but had no negative effects on the outcome. Reoperations or planned secondary operations were performed in 23 patients with GS and 14 with OC. Early mortality was…