A new lethal syndrome of exomphalos, short limbs, and macrogonadism.
We report a new lethal multiple congenital abnormality (MCA) syndrome of exomphalos, short limbs, nuchal web, macrogonadism, and facial dysmorphism in seven fetuses (six males and one female) belonging to three unrelated families. X rays showed enlarged and irregular metaphyses with a heterogeneous pattern of mineralisation of the long bones. Pathological examination showed adrenal cytomegaly, hyperplasia of Leydig cells, ovarian stroma cells, and Langherans cells, and renal microcysts. We suggest that this condition is a new autosomal recessive MCA syndrome different from Beckwith-Wiedemann syndrome, especially as no infracytogenetic deletion or uniparental disomy of chromosome 11 was found. (+info)
Congenital hernia of the abdominal wall: a differential diagnosis of fetal abdominal wall defects.
A 28-year-old woman was referred at 33 weeks of gestation with suspected fetal intestinal atresia. Sonography showed a large extra-abdominal mass on the right of the normal umbilical cord insertion. Following Cesarean section at 36 weeks and immediate surgical treatment, the malformation was not definable either as an omphalocele or as gastroschisis. This reported case involves a previously undocumented malformation of the fetal abdominal wall described as a 'hernia' of the fetal abdominal wall. (+info)
Artefactual increasing frequency of omphaloceles in the Northern Netherlands: lessons for systematic analysis of apparent epidemics.
BACKGROUND: While monitoring birth defects in a registry, statistically significant increases in prevalence occasionally occur. In the European Registration Of Congenital Anomalies (EUROCAT) in the Northern Netherlands 20000 births are monitored every year. For omphaloceles, a steady increase in the prevalence from 0.86 per 10000 live- and stillbirths in 1981-1983 to 3.11 per 10000 live- and stillbirths in 1994 was seen in the three northern provinces of The Netherlands. METHODS: A stepwise enquiry into this increase, which included checking for misclassification and change in coding and ascertainment when necessary, was done. All cases of omphalocele and associated or similar birth defects registered at the EUROCAT registry were retrieved and if necessary recoded. RESULTS: This study showed that the increase reported previously was not a true time trend. A few cases of e.g. diastasis recti and trisomy 18 were misclassified. The prevalence in more recent years is comparable with that in the rest of Europe, whereas it used to be lower. There was an increase in isolated omphalocele, but the numbers are small. CONCLUSIONS: The stepwise enquiry described should be a standard procedure after noticing an increasing prevalence in a registry. A better subdivision, e.g. in isolated cases versus children with multiple congenital anomalies, before monitoring can contribute to a lower number of false positive signals. (+info)
Sonographic features of fetal trisomy 18 at 13 and 14 weeks: four case reports.
Fetal trisomy 18 is the second most common multiple malformation syndrome. We present four cases of trisomy 18 with multiple sonographic abnormalities at 13 and 14 weeks of gestation. These cases demonstrated that fetal hand deformities can be a tell-tale sign of trisomy 18 with or without increased nuchal translucency at this gestation. (+info)
Management of umbilical hernias associated with hepatic cirrhosis and ascites.
A series of 35 umbilical herniorraphies in patients with cirrhosis of the liver is reported. In this group there were eight significant complications (22%) and six deaths (16%). There was no evidence in this study of increased likelihood of esophageal variceal bleeding secondary to the interruption of portosystemic collaterals in the umbilical region. An aggressive surgical approach is indicated in cirrhotic patients, with umbilical herniae complicated by incarceration, strangulation, rupture, ulceration, and leakage of ascitic fluid. On the other hand it is recommended, that repair of non-complicated umbilical herniae be delayed until the cirrhosis is stabilized, ascites has diminished and nutrition has been improved. In many instances herniorrhaphy may not be necessary after disappearance of ascites. (+info)
Abdominal wall defects: two- versus three-dimensional ultrasonographic diagnosis.
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. Our experience suggests that in cases in which abdominal wall defects are first detected by two-dimensional ultrasonographic scanning, the additional information gained by complementary three-dimensional ultrasonographic scanning can be useful for more-efficient counseling and postnatal therapeutic planning. (+info)
Prenatal sonographic diagnosis of a twinning epigastric heteropagus.
Epigastric heteropagus is a rare type of conjoined twinning which results from an ischemic atrophy of one fetus at an early stage of gestation. We present what we believe to be the first case diagnosed antenatally at 22 weeks' gestation. The pelvis and lower limbs of the ischemic fetus (the parasite) were attached to the epigastrium of the well-developed fetus (the autosite), which had a small omphalocele. Antenatal sonography provided an accurate diagnosis, enabling unnecessary abortion to be avoided. (+info)
Anuria, omphalocele, and perinatal lethality in mice lacking the CD34-related protein podocalyxin.
Podocalyxin is a CD34-related sialomucin that is expressed at high levels by podocytes, and also by mesothelial cells, vascular endothelia, platelets, and hematopoietic stem cells. To elucidate the function of podocalyxin, we generated podocalyxin-deficient (podxl(-/)-) mice by homologous recombination. Null mice exhibit profound defects in kidney development and die within 24 hours of birth with anuric renal failure. Although podocytes are present in the glomeruli of the podxl(-/)- mice, they fail to form foot processes and slit diaphragms and instead exhibit cell--cell junctional complexes (tight and adherens junctions). The corresponding reduction in permeable, glomerular filtration surface area presumably leads to the observed block in urine production. In addition, podxl(-/)- mice frequently display herniation of the gut (omphalocele), suggesting that podocalyxin may be required for retraction of the gut from the umbilical cord during development. Hematopoietic and vascular endothelial cells develop normally in the podocalyxin-deficient mice, possibly through functional compensation by other sialomucins (such as CD34). Our results provide the first example of an essential role for a sialomucin in development and suggest that defects in podocalyxin could play a role in podocyte dysfunction in renal failure and omphalocele in humans. (+info)