1/24. OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects) in monozygotic twins.The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a consistent and recognizable pattern of midline abdominal and pelvic defects. It is rare, affecting 1 in 200,000 to 400,000 pregnancies and is even rarer in twin gestations. This is an autopsy study of OEIS complex in monozygotic twins after pregnancy termination at 20 weeks of gestation. Unremarkable family history but concordance of monozygotic twins for the defects may support the theory that early malformation complexes, e.g., OEIS, and monozygotic twinning are manifestations of the same disturbance of early blastogenesis.- - - - - - - - - - ranking = 1keywords = gestation, pregnancy (Clic here for more details about this article) |
2/24. Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis.Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of alae nasi, pancreatic insufficiency, aplasia cutis, anorectal anomalies and postnatal growth restriction. In this case report, we describe the prenatal sonographic findings of Johanson-Blizzard syndrome in a 21-week pregnancy of a consanguineous couple. Sonographic findings of aplastic alae nasi (beak-like nose) and dilated sigmoid colon led to the prenatal diagnosis. This is the first report of the prenatal sonographic diagnosis of Johanson-Blizzard syndrome.- - - - - - - - - - ranking = 0.056031938076891keywords = pregnancy (Clic here for more details about this article) |
3/24. The split notochord syndrome with dorsal enteric fistula, meningomyelocele and imperforate anus.A male infant was referred to our department because of lumbosacral meningomyelocele, dorsal enteric fistula and imperforate anus. The mother had received a parenteral drug containing estradiol benzoate and progesterone for inducing abortion in the first trimester. She also used an anal pomade containing triamcinolone and lidocaine-HCl during the pregnancy for hemorrhoids. Sigmoid end colostomy was performed after meningomyelocele repair. On abdominal exploration a wandering spleen was detected but no other anomalies. Two months later, an abdominoperineal pullthrough was performed, and the patient was discharged well after three weeks. Our case is the sixth that had split notochord syndrome associated with dorsal enteric fistula and imperforate anus. Additionally, penoscrotal transposition and wandering spleen were present in this case. To our knowledge, these associated anomalies have been extremely rare.- - - - - - - - - - ranking = 0.056031938076891keywords = pregnancy (Clic here for more details about this article) |
4/24. Caudal dysplasia sequence with penile enlargement: case report and a potential pathogenic hypothesis.The clinical spectrum of caudal dysplasia sequence (CDS) is noted for its diversity. The origin of CDS remains unknown, though poorly controlled gestational diabetes has been implicated in some cases. Here we describe the case of a newborn with CDS associated with penile enlargement (PE). The main anomalies included anal atresia, agenesis of the kidneys and of the sacrococcygeal vertebrae, dysgenesis of lumbar vertebrae, and bilateral cryptorchidism. Penile enlargement (7 cm), a rather unusual finding, has so far not been reported in association with CDS. Chromosomal analysis failed, and the neonate died 30 min after birth. comparative genomic hybridization analysis using stored dna showed a balanced normal male dna content, which negates chromosomal losses or gains as a cause of CDS and/or PE. PE due to virilizing-type adrenal hyperplasia, caused by common mutations in the genes encoding for the adrenal enzymes 21-hydroxylase and 11-hydroxylase, was ruled out. We report on a previously unpublished case of the coexistence of PE and severe CDS and propose a possible pathogenetic hypothesis of this association. copyright Wiley-Liss. Inc.- - - - - - - - - - ranking = 0.47198403096155keywords = gestation (Clic here for more details about this article) |
5/24. Antenatally diagnosed cloacal exstrophy variant with intravesical phallus in a twin pregnancy.We report a rare case of covered cloacal exstrophy variant with a hemiphallus trapped within partially closed bladder halves. The persistence of the cloacal membrane until at least 18 weeks' gestation, confirmed by antenatal ultrasound scanning, is discordant with existing theories of embryogenesis of cloacal exstrophy. The clinical presentation highlights the need for careful assessment, before and during surgery, to obtain a complete understanding of the anatomic defect before gender assignment and appropriate reconstructive efforts. A multispecialty approach and antenatal counseling are important, especially when only one fetus of twins has major birth defects.- - - - - - - - - - ranking = 0.69611178326912keywords = gestation, pregnancy (Clic here for more details about this article) |
6/24. A case of del(13)(q22) with multiple major congenital anomalies, imperforate anus and penoscrotal transposition."13q-"syndrome is known to have widely variable manifestations, including retinoblastoma, mental & growth retardation, malformation of brain & heart, anal atresia, and anomalies of the face and limbs. Here we report a case of del(13)(q22) with multiple major congenital anomalies for the first time in korea. The patient was born at 36( 4) weeks of pregnancy by caesarian section. birth weight was 1490g. On examination the following features were noted: - imperforate anus, ambiguous genitalia (bifid scrotum, penoscrotal transposition, hypospadia), syndactyly of toes, absence of thumbs, abnormal facies (dolichocephaly, telecanthus, large low set ears, saddle nose, high arched palate, micrognathia). Neurocranial ultrasonography showed atrophy of the corpus callosum and multiple calcifications. He died at 14 days. Post-mortem autopsy findings showed cholestasis and fatty metamorphosis of liver, abnormal lobulation (Rt:2, Lt:1) and lymphangiectasis of the lung, VSD, ASD, PDA of heart, and acute tubular necrosis of kidney. Cytogenetic studies was confirmed to 46,XY,del(13) (q22) by Giemsa banded chromosomes from peripheral blood lymphocytes.- - - - - - - - - - ranking = 0.056031938076891keywords = pregnancy (Clic here for more details about this article) |
7/24. Sonographic features of anal atresia at 12 weeks.Anorectal atresia results from abnormal development of the anorectal septum. prenatal diagnosis is difficult but the condition may be suspected by the sonographic demonstration of a dilated colon. We present the sonographic features of a fetus with anal atresia and a ventricular septal defect at 12 weeks of gestation. This case illustrates that a dilated colon may be present in association with fetal anal atresia as early as 12 weeks.- - - - - - - - - - ranking = 0.47198403096155keywords = gestation (Clic here for more details about this article) |
8/24. Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS.BACKGROUND: Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare sporadic condition. CASE: We identified an infant with major malformations resembling OEIS. He was the product of a 30-week triplet pregnancy conceived by in vitro fertilization (IVF) and evaluated by chorionic villi sampling (CVS). In this article, we review the possible pathogenetic mechanisms in this case, including IVF, multiple gestation, trauma to the uterus or uterine vessels following CVS, and placenta accreta. CONCLUSIONS: We conclude that the cumulative effects of all or some of these factors may have resulted in uteroplacental insufficiency adequate to produce this phenotype. This case provides additional evidence for the uterine vascular pathogenesis of OEIS complex in humans.- - - - - - - - - - ranking = 0.75214372134601keywords = gestation, pregnancy (Clic here for more details about this article) |
9/24. Cloacal exstrophy: prenatal diagnosis before rupture of the cloacal membrane.Embryologically, cloacal exstrophy is thought to result from persistence and subsequent rupture of the infraumbilical cloacal membrane during the fifth embryonic week. We report a case of cloacal exstrophy in which a prenatal diagnosis was made prior to rupture of the cloacal membrane. A routine ultrasound at 17 weeks' gestation demonstrated monoamniotic twins. One twin was normal, but the other was found to have a sacral myelomeningocele, "rocker-bottom" feet, splaying of the pubic rami, and a large cystic mass protruding from the infraumbilical anterior abdominal wall. A repeat ultrasound was performed at 22 weeks, with the same findings. At 26 weeks, further examination showed disappearance of the abdominal cyst, a small omphalocele, no demonstrable bladder, and the suggestion of prolapsed bowel inferior to the umbilical cord insertion. After delivery at 34 weeks, the abnormal twin was found to have the typical findings of cloacal exstrophy, myelomeningocele, bilateral lower limb anomalies, and extremely foreshortened small bowel. rupture of the presumed cloacal membrane after 22 weeks in this case is inconsistent with our current understanding of the embryology of this anomaly, and should stimulate a reexamination of the current concepts. If the characteristic features are recognized, cloacal exstrophy can be diagnosed by prenatal ultrasound, permitting prenatal counseling and appropriate perinatal management.- - - - - - - - - - ranking = 0.47198403096155keywords = gestation (Clic here for more details about this article) |
10/24. trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities.An 18 week foetus with multiple system abnormalities was found to have full trisomy 16. This appears to be only the third reported case surviving into mid-gestation; typically, this common aneuploidy dies post-implantation. Similarities exist in the abnormalities found in the three cases suggesting that there is a 'surviving' trisomy 16 phenotype. It is characterised by: absent hemidiaphragm, pulmonary hypoplasia/aplasia, major cardiac defect, small chest, vertebral and rib defects, cystic kidneys, absent gall bladder, multiple spleens and imperforate anus, together with cleft palate, nuchal webbing/cystic hygroma, microcephaly, marked dysmorphic facial features and dorsiflexed great toe.- - - - - - - - - - ranking = 0.47198403096155keywords = gestation (Clic here for more details about this article) |
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