1/21. 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.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
2/21. 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 BUAS has estimated that 38%-40% of reproductive-aged women taking isotretinoin chose to enroll in the survey (BUAS, unpublished data, 1999).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.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
3/21. valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.Fetal Valproate syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
4/21. Intrauterine diethyltoluamide exposure and fetal outcome.The CNS toxicity of the insect repellent, diethyltoluamide (deet), has been documented by several publications on severely affected adults and children. We report a 4-year-old boy with mental retardation, impaired sensorimotor coordination, and craniofacial dysmorphology, whose mother applied deet daily throughout her whole pregnancy in addition to the prophylactic use of chloroquine.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
5/21. Combined chemotherapy and teratogenicity.BACKGROUND: The concomitant occurrence of breast cancer and pregnancy is relatively uncommon. We report the case of a patient with syndactyly, cleft hands, and absence of distal finger phalanges associated with maternal exposure to chemotherapeutic agents during the first trimester of pregnancy. These associations have not been previously described. CASE: The patient was born by normal delivery after 38 weeks of pregnancy. His mother became pregnant while receiving chemotherapy (cyclophosphamide, 5-fluorouracil, and adriamycin) for breast cancer, and the fetus was exposed to these drugs from conception to the 16th week of pregnancy. At birth, anomalies were observed, including a high-arched palate, microcephaly, a flat nasal bridge, bilateral syndactyly in the first and second fingers with a hand cleft between the second and third fingers and hypoplasia of the fifth fingers, and dystrophic nail of the fourth finger of the left hand. The patient's growth and development were deficient. CONCLUSIONS: The malformations associated with in utero exposure to these chemotherapeutic agents are highly variable, but growth deficiency and anomalies of the craniofacial region and limbs are the most common. The pattern of malformations in children who were congenitally exposed to chemotherapeutic agents appears to be directly related to the age at and duration of exposure, rather than to the specific drug itself. Effective contraception is essential for the safe use of a potential teratogen in nonpregnant women of reproductive age.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
6/21. 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 = craniofacial (Clic here for more details about this article) |
7/21. toluene embryopathy: two new cases.toluene embryopathy is characterised by microcephaly, central nervous system dysfunction, attentional deficits and hyperactivity, developmental delay with greater language deficits, minor craniofacial and limb anomalies, and variable growth deficiency. Previously, three affected children, born to women who inhaled toluene regularly throughout pregnancy, have been reported. Two more cases are described emphasising the importance of toluene as a potential human teratogen.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
8/21. congenital abnormalities in two sibs exposed to valproic acid in utero.Neural tube, craniofacial, and other congenital abnormalities have been described in infants born to mothers with epilepsy who were treated with valproic acid (VPA) during pregnancy. The pathogenetic relationship between the congenital abnormalities and exposure to VPA is not clear. We describe 3 sibs born to a mother with epilepsy. Only the 2 sibs who were exposed to VPA in utero had certain of the characteristic craniofacial changes described in previous reports of children with similar exposure. In addition, the 2 affected children had other craniofacial and skeletal abnormalities which have not been reported previously as teratogenic sequelae of VPA exposure. Many of the minor anomalies present in the 2 affected patients resemble those observed in rhesus monkeys exposed to VPA in utero. This suggests that the abnormalities observed in the 2 children may have been a consequence of intrauterine exposure to VPA.- - - - - - - - - - ranking = 3keywords = craniofacial (Clic here for more details about this article) |
9/21. Is reserpine a human teratogen?A single stillborn female with craniofacial, abdominal, and central nervous system malformations was exposed to reserpine during the first six weeks of gestation. Parallels between the malformations present in this infant and those induced in rats through exposure to reserpine at analogous periods of gestation suggest that reserpine may pose specific risks for malformations in some pregnancies.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
10/21. toluene embryopathy.Three children with microcephaly, central nervous system dysfunction, minor craniofacial and limb anomalies, and variable growth deficiency were born to women who inhaled large quantities of pure toluene throughout pregnancy. The features in our patients were reminiscent of the patterns of malformation previously described following in utero exposure to alcohol, certain anticonvulsants, and hyperphenylalaninemia. It is possible that there is a variable and nonspecific teratogenic phenotype characterized by alterations in growth, development, and morphogenesis. Careful evaluation and monitoring of infants exposed to toluene in utero are needed to determine the significance of our findings.- - - - - - - - - - ranking = 1keywords = craniofacial (Clic here for more details about this article) |
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