1/11. methimazole embryopathy: delineation of the phenotype.We report on a further case of congenital anomalies in a child exposed to methimazole during the first trimester of pregnancy (from first to seventh gestational week), and define a specific malformation pattern related to prenatal methimazole exposure and consisting of choanal and esophageal atresia, scalp defects, minor facial anomalies and psychomotor delay.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
2/11. esophageal atresia and tracheoesophageal fistula in two infants born to hyperthyroid women receiving methimazole (Tapazol) during pregnancy.We report on 2 newborn infants with esophageal atresia and tracheoesophageal fistula (EA TEF) born to hyperthyroid mothers receiving methimazole (Tapazol) before and during their entire pregnancies. Both mothers were euthyroid during gestation and developed hydramnios diagnosed during weeks 34 and 33 of gestation. Premature delivery (36.2 weeks of gestation) occurred in one case, and both newborn infants were small for date with palpable goiter; one of them had other associated malformations. hypothyroidism was diagnosed by laboratory tests in both cases. Corrective surgery was undertaken, but both newborn infants developed septicemia and renal insufficiency and died in the first week of life. The EA TEF and a normally placed enlarged thyroid gland were confirmed at necropsy. These cases represent a previously unreported example of the association of maternal ingestion of methimazole during pregnancy and EA TEF.- - - - - - - - - - ranking = 5keywords = atresia (Clic here for more details about this article) |
3/11. warfarin embryopathy.A 34-year-old gravida 2 para 1 (1001) mother was on prophylactic anticoagulation therapy because of pulmonary emboli postabdominal surgery. The pregnancy was terminated at 25 weeks' gestation after ultrasound examination showed a mild hydrocephalus and a cardiac structural defect. congenital abnormalities of the delivered fetus included nasal hypoplasia, earfold atresia, bilobled lungs, coarctation of the aorta, ventricular septal defect, gastrochisis, and radiographic skeletal stippling. The radiological and physical findings were consistent with warfarin embryopathy.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
4/11. carbimazole embryopathy: an emerging phenotype.Concerns about the safety of carbimazole in pregnancy were raised in 1985. Since this time many reports of children believed to have been affected by carbimazole in utero have appeared in the medical literature. Initial reports were of an increased incidence of scalp defects in the infants of treated mothers, but many other anomalies have now been described. choanal atresia, gastrointestinal anomalies-particularly esophageal atresia, athelia/hypothelia, developmental delay, hearing loss, and dysmorphic facial features have all been reported. The phenotype associated with exposure to carbimazole appears to be rare but specific with distinctive facial features. We report on two new cases of carbimazole embryopathy with strikingly similar facial features.- - - - - - - - - - ranking = 2keywords = atresia (Clic here for more details about this article) |
5/11. choanal atresia - a recurrent feature of foetal carbimazole syndrome.choanal atresia is described as a feature of several congenital anomaly phenotypes. Most cases of choanal atresia arises as an isolated clinical finding. In utero exposure to carbimazole for maternal hyperthyroidism has been reported in five cases of choanal atresia. We report another instance of this teratogenic cause of choanal atresia. Maternal drug history is an important aspect of assessment in cases of choanal atresia.- - - - - - - - - - ranking = 9keywords = atresia (Clic here for more details about this article) |
6/11. Limb reduction defects in humans associated with prenatal isotretinoin exposure.Retinoic acid has long been used to induce limb reductions defects in experimental animal studies. No limb malformations, however, have been reported among malformed retinoic acid-exposed human fetuses from case reports or epidemiologic studies. We report a child and a fetus with limb reduction malformations following maternal use of isotretinoin (13-cis-retinoic acid) during the first trimester of pregnancy. The child had a unilaterally absent clavicle and nearly absent scapula, with a short humerus and short, synostotic forearm bones. He also had ventriculomegaly and developmental delay, minor dysmorphic facial features, and a short sternum with a sterno-umbilical raphe. The fetus had a unilaterally absent thumb with normal proximal bony structures. Other findings included hydrocephalus, craniofacial anomalies, thymic agenesis, supracristal ventricular septal defect, single umbilical artery, anal and vaginal atresia, and urethral agenesis with dysplastic, multicystic kidneys. Although the limb malformations were quite dissimilar, a number of anomalies that are frequently found among isotretinoin-exposed fetuses/infants were present in both cases. This increases the probability that retinoic acid caused these limb defects, but a causal association cannot be conclusively drawn on the basis of these two retrospective case reports.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
7/11. choanal atresia and athelia: methimazole teratogenicity or a new syndrome?An infant girl with choanal atresia, athelia, minor anomalies, and mild to moderate mental retardation was born to a woman treated for hyperthyroidism throughout pregnancy with methimazole and propranolol. The patient's defects may be due to methimazole teratogenicity or could represent a previously undescribed syndrome affecting ectodermal structures.- - - - - - - - - - ranking = 5keywords = atresia (Clic here for more details about this article) |
8/11. valproic acid and congenital malformations. A case report.An infant exposed in utero to valproic acid was born with multiple congenital malformations, including duodenal atresia, lumbar vertebral fusion, thoracolumbar scoliosis, renal abnormalities, diastasis recti abdominis, depigmentation of the eyebrows, and a large hemangioma. The child had neonatal hyperbilirubinemia and postnatal growth deficiency. This case report is an addition to the literature implicating valproic acid as a human teratogen.- - - - - - - - - - ranking = 1keywords = atresia (Clic here for more details about this article) |
9/11. Jejunal atresia associated with Cafergot ingestion during pregnancy.Fetal vascular accidents have been suggested as one cause for jejunal atresia due to in utero interruption of the superior mesenteric arterial supply to the intestines. Experimental studies support this hypothesis, and ergotamine has been shown to be a teratogen in experimental animals as a consequence of its vasoconstrictive action. We report the occurrence of intrauterine growth retardation and jejunal atresia in an offspring of a woman who also experienced four spontaneous abortions. During each of six pregnancies, the mother had taken as many as eight Cafergot tablets daily. We raise the hypothesis that Cafergot (1 mg ergotamine tartrate and 100 mg caffeine) might represent a vascular disruptive teratogenic agent during pregnancy. This hypothesis is supported by the clinical association of nonduodenal intestinal atresia with other defects that have a disruptive vascular etiology.- - - - - - - - - - ranking = 7keywords = atresia (Clic here for more details about this article) |
10/11. intestinal atresia following intraamniotic use of dyes.Since 1990 avoidance of methylene blue as a dye in diagnostic amniocentesis is recommended. This is a result of the observation that a high incidence of jejunoileal atresia appeared in twin pregnancies following intraamniotic injection of methylene blue. We report four further cases of jejunoileal atresia in twins after intraamniotic injection of dyes since 1991. We describe the clinical course, discuss possible teratogenic mechanisms and emphasize again that synthetic dyes should not be used in second trimester amniocentesis.- - - - - - - - - - ranking = 6keywords = atresia (Clic here for more details about this article) |
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