1/273. 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. ( info) |
2/273. Cervical teratoma. Cervical teratomas are rare tumors in an unusual location. A neck mass in a newborn was excised when it enlarged disproportionately; histologically, it was a teratoma. Teratomas may occur because of an alteration in sterol chemistry; conception in this case occurred while the mother was ingesting estrogens. Retinal tissue, an unusual finding, was present in this teratoma. Symptoms in cervical teratomas are secondary to interference with deglutition and respiration. Treatment is surgical excision. ( info) |
3/273. 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. ( info) |
4/273. 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. ( info) |
5/273. Developmental delay in fetal aminopterin/methotrexate syndrome. Maternal exposures to aminopterin and methotrexate have been associated with a pattern of malformation which includes prenatal-onset growth deficiency, severe lack of ossification of the calvarium, hypoplastic supraorbital ridges, small, low-set ears, micrognathia, and limb abnormalities. We report on a patient whose mother received methotrexate during the first trimester of pregnancy and who, in addition to the structural anomalies typical of maternal methotrexate exposure, has significant developmental delay. This is the third patient exposed to folic acid antagonists with mental retardation, providing further evidence that developmental delay is one feature of fetal aminopterin-methotrexate syndrome. Therefore, it is recommended that formal developmental testing be performed in all patients prenatally exposed to methotrexate. ( info) |
6/273. Diphenylhydantoin teratogenicity: ocular manifestations and related deformities. This patient illustrates a classical case of what many pediatricians call the diphenylhydantoin teratogenic syndrome. It suggests the possibility of an additional ocular finding of retinoschisis and optic nerve abnormalities which could conceivably have a teratogenic basis. The effects of epilepsy and diphenylhydantoin on these formations is discussed. ( info) |
7/273. Another case of achalasia-microcephaly syndrome. The first German patient with achalasia-microcephaly syndrome is described. The mother was exposed to the anti-malarial drug mefloquine during the first 8 weeks of pregnancy. ( info) |
| vitamin a and its derivatives are known teratogens. To our knowledge, this is the second temporal bone histopathologic report on anomalies related to these substances. A white boy (aged 4 years 5 months at death) was born with a complex central nervous system dysgenesis related to his mother's use of isotretinoin (Accutane) early in pregnancy. Histopathologic examination revealed multiple anomalies in the temporal bones: a narrow external auditory canal, protrusion of bone marrow into the middle ear cavity, anomalies of the ossicles, hypoplasia of the facial nerve, absence of the chorda tympani nerve and the stapedius muscle, anomalies of the membranous labyrinth in the vestibule, a hypoplastic lateral semicircular canal, and a large vestibular aqueduct and endolymphatic sac. ( info) |
9/273. 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. ( info) |
10/273. Accutane-exposed pregnancies--california, 1999. Accutane (Roche laboratories, Nutley, new jersey), known by the generic name "isotretinoin," is a prescription oral medication approved by the food and Drug Administration (FDA) to treat severe, recalcitrant nodular acne. It is also a known human teratogen that can cause multiple major malformations. Embryopathy associated with the mother's exposure to isotretinoin during the first trimester of pregnancy includes craniofacial, cardiac, thymic, and central nervous system malformations . In response to FDA recommendations, the manufacturer began a pregnancy-prevention program (PPP) in 1988 that included educational materials for physicians and patients and offered women reimbursement for contraceptive counseling by a physician. The PPP coordinators asked reproductive-aged women being treated with isotretinoin to enroll voluntarily in the boston University Accutane Survey (BUAS). The total number of reproductive-aged women taking isotretinoin in the united states is unknown; however, 454,273 women enrolled in the BUAS from 1989 to October 1999. BUAS has estimated that 38%-40% of reproductive-aged women taking isotretinoin chose to enroll in the survey (BUAS, unpublished data, 1999). Although isotretinoin is contraindicated in pregnancy and has a package label warning users to avoid pregnancy while taking it, exposed pregnancies occur. Approximately 900 pregnancies occurred among BUAS enrollees during 1989-1998 (BUAS, unpublished data, 1999). Roche laboratories began direct-to-consumer print advertisements in 1996, added television and radio advertisements to selected cities in 1997, and expanded the campaign to the entire united states in 1998. ( info) |