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1/131. 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.
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ranking = 1
keywords = congenita, defect
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2/131. Atrioventricular septal defect with separate right and left atrioventricular valvar orifices in a patient with foetal hydantoin syndrome.

    The teratogenic properties of phenytoin, including cardiac malformations, have been previously documented. We report one patient with foetal hydantoin syndrome and atrioventricular septal defect with common atrioventricular junction but separate right and left atrioventricular valves, an association that has not been described, to the best of our knowledge.
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ranking = 1.2224487302555
keywords = defect
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3/131. Terminal transverse limb defects with tethering and omphalocele in a 17 week fetus following first trimester misoprostol exposure.

    We report a fetus from an elective termination at 17 weeks gestation following maternal ingestion of 1200 micrograms of misoprostol at 7 weeks of gestation. The fetus had abscence of the middle and distal phalanges of fingers 1, 3, 4 and 5 with tethering by thin strands of tissue on one hand, a below-knee amputation of one leg and omphalocele. There was absence of amnion on the chorionic surface of the placenta, a pathologic feature of early amnion rupture. The association in this case of the phenotypic features of the amniotic band syndrome suggests that the teratogenicity of misoprostol at 9 to 12 weeks gestation can overlap that of other acute insults at that time, such as chorionic villus sampling, dilatation and curettage and abdominal trauma in the first trimester.
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ranking = 0.97795898420438
keywords = defect
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4/131. blepharoptosis and central nervous system abnormalities in combined valproate and hydantoin embryopathy.

    PURPOSE: To report a case of intrauterine anticonvulsant exposure with subsequent ocular adnexal manifestations. methods: Case report. RESULTS: An 18-month-old child with known anticonvulsant embryopathy was referred for the management of bilateral congenital blepharoptosis. physical examination confirmed ocular and nonocular external manifestations of valproate and hydantoin embryopathies. Cavum septum pellucidum, mild sulcation defects, and cerebellar atrophy were identified on neuroimaging. CONCLUSIONS: To our knowledge, our patient represents the second reported case of anomalous septum pellucidum after intrauterine valproate exposure. Clinicians evaluating patients with craniofacial features associated with intrauterine valproate exposure should recognize that concomitant anomalies of the central nervous system, including the septum pellucidum, might exist.
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ranking = 1
keywords = congenita, defect
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5/131. Is congenital fibre type disproportion a true myopathy?

    The authors report a case of congenital fibre type disproportion in a 32-month-old male patient. A pathogenetic role of alcohol ("fetal alcohol syndrome") could be discussed here because the mother drank daily large quantities of alcohol during pregnancy. Histochemical features undistinguishable from those reported in congenital fibre type disproportion were also observed in two cases of globoid cell leucodystrophy (Krabbe's disease) and in one case of infantile acid maltase deficiency (Pompe's disease). Morphometric studies confirmed this analogy. The occurrence of a similar fibre type disproportion in conditions so completely different from each other casts doubts as to the specificity of these histoenzymatic features. It is suggested that at least some cases of congenital fibre type disproportion could result from a maturational insufficiency of type I motor neurons or from a damage brought to the schwann cells.
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ranking = 5.2885717776423
keywords = congenita
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6/131. Retro-peritoneal cystic lymphangioma in association with fetal hydantoin syndrome.

    Antiepileptic drugs are known to be teratogenic. Use of phenytoin during pregnancy can cause various congenital malformations leading to 'fetal hydantoin syndrome'. One such case reported is unique in the sense that it occurred with retroperitoneal cystic lymphangioma, itself a rare condition. Such an association is not described elsewhere.
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ranking = 0.7555102539489
keywords = congenita
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7/131. Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature.

    The case of a girl with cloverleaf skull (CLS) and multiple congenital anomalies is reported. Both parents have a history of drug use. Maternal cocaine abuse during the first trimester of pregnancy was obvious, and other drugs, such as marihuana and alcohol, were also taken by the mother. Many central nervous system malformations have been reported in association with cocaine abuse, the most severe being midline defects and neural tube defects. To our knowledge this is the first case reported of CLS anomaly associated with drug exposure. We also describe other anomalies not previously reported in association with CLS.
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ranking = 4.2665307618467
keywords = congenita, defect
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8/131. Post-axial limb defects with maternal sodium valproate exposure.

    A male child is described with bilateral talipes equinovarus, absent fibulae with bowing and shortening of the tibiae and facial dysmorphic features. His mother was on a daily dose of 2000 mg sodium valproate for convulsions. This case raises the possibility that postaxial limb defects might be caused by intrauterine valproate exposure.
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ranking = 1.2224487302555
keywords = defect
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9/131. Prune-belly syndrome associated with extra-abdominal abnormalities in a 7-year-old boy.

    Prune-belly syndrome (PBS) is an association of abdominal wall deficiency, genitourinary anomalies, and in males, cryptorchidism. Other congenital anomalies are associated with PBS, particularly musculoskeletal deformities and gastrointestinal tract anomalies. In this report, a seven-year-old boy with PBS had mega cisterna magna variant, microcornea, aortic stenosis with bicuspid aortic valves, cholelithiasis, and Hirschsprung's disease. Coexistence of these abnormalities with PBS supports the concept of PBS being caused by an early disturbance of not only mesodermal development but also of the other germ layers. There was maternal ingestion of drugs in the 1st month of gestation. All cases with PBS should be evaluated thoroughly for extra-abdominal abnormalities resulting from disturbances of ectodermal and endodermal development. Even though disturbances related to ectodermal and endodermal development may be asymptomatic, early diagnosis of the disturbances may help in preventing possible future problems.
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ranking = 0.7555102539489
keywords = congenita
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10/131. A case of isotretinoin embryopathy with bilateral anotia and Taussig-Bing malformation.

    We report a newborn infant with multiple congenital anomalies (anotia and Taussig-Bing malformation) due to exposure to isotretinoin within the first trimester. In this paper we aim to draw to the fact that caution is needed when prescribing vitamin a-containing drugs to women of childbearing years.
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ranking = 0.7555102539489
keywords = congenita
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