1/9. 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 = physical (Clic here for more details about this article) |
2/9. 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 = physical (Clic here for more details about this article) |
3/9. Teratogenic effect of carbamazepine.A girl was born to a mother who had undergone treatment for epilepsy with carbamazepine during pregnancy. The infant had dysmorphic features and was physically and mentally retarded. We consider that the malformations were the result of the maternal treatment with carbamazepine.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/9. A case of suspected teratogenic holoprosencephaly.A case of holoprosencephaly is reported in which the mother was prescribed high doses of oestroprogestins during the first 5 months of the pregnancy. Investigation of the family failed to reveal any sign of physical abnormality. A normal karyotype was detected in the proband. The authors suggest that this case may shed some light on the normal and abnormal way in which embryonic fields develop.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/9. The fetal trimethadione syndrome: report of an additional family and further delineation of this syndrome.We describe a family in which seven pregnancies resulted in four infants who died and in three abortions. During these pregnancies the mother took trimethadione (Tridione), as well as other anticonvulsants. Two normal children were born after treatment with all medications were stopped. There have now been 53 reported pregnancies in which the fetuses were exposed to trimethadione or paramethadione; 48 (87%) resulted in fetal loss or a child born with congenital malformations. The most common defects include malformed ears, cleft palate, cardiac defects, urogenital malformations, and skeletal abnormalities. Delayed mental and physical development were also seen. These findings constitute a clinical entity termed the fetal trimethadione syndrome. The malformation rate is believed to be due to the teratogenic effects of trimethadione. physicians need to be aware of the danger of trimethadione and related drugs during pregnancy and should withhold these medications during this period.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/9. warfarin embryopathy in siblings.Two siblings were noted to have the physical stigmata of the fetal warfarin syndrome. Their mother had received warfarin sodium for thrombophlebitis during both pregnancies but not during that of an unaffected sibling. teratogens may produce syndromes that mimic genetic disease in both phenotype and familial aggregation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/9. Cervical stenosis following minor gynecologic procedures on DES-exposed women.The findings associated with diethytlstilbestrol (DES) exposure in utero are expanding rapidly. Structural abnormalities in both the cervix and uterus are well documented; in addition the authors have noted indications of an abnormal healing response in these women. Locally destructive methods such as cryosurgery, cauterization, and excision have resulted in permanent and significant physical damage. Caution is advised in attempting even minor gynecologic procedures on DES-exposed offspring.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/9. Omphalocele-exstrophy-imperforate-anus-spina bifida (OEIS) complex in a male prenatally exposed to diazepam.A male clinically affected by the OEIS complex was studied. His mother, aged 30 years, has an affective disorder and ingested 30 mg of diazepam daily, from 3 months previous to the gestation and during the entire pregnancy. At birth, a closure during the entire pregnancy. At birth, a closure defect of the anterior abdominal wall, exstrophy of hemibladders, exposure of intestinal epithelium, abnormal pelvis, imperforate anus, and bifid penis were noted. birth weight was 3600 g and other measurements were not recorded. colostomy was performed in the postnatal period followed by partial closure of the abdominal wall defect, and iliac osteotomies. At six years, 6 months of age, physical examination showed somatometric measurements around the third percentile (height 109 cm, weight 17 kg, cephalic circumference 48.5 cm). Clinically he presented mild mental retardation, functional colostomy, incomplete closure of the vesical exstrophy, imperforate anus, bifid penis and scrotum, descended testes, diastasis of pubis, lumbosacral scoliosis and shortening of the left leg (clinical photograph of the external features is not included as we were not able to obtain authorization to do so). Radiological studies (Figure 1) revealed wide separation of the ischiopubic bones; lumbosacral region with rotoscoliosis, platyspondyly and dysraphism; left coxa valga, and right coxa vara. The abdominal ultrasonographic studies showed unilateral renal agenesis (left). Chromosomal analysis (GTG bands) in peripheral blood lymphocyte cultures demonstrated a normal 46,XY constitution. Exposure to other substances, particularly alcohol, were excluded with the study of the mother's medical history and through information obtained from relatives.(ABSTRACT TRUNCATED AT 250 WORDS)- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/9. Sagittal craniosynostosis and multiple skeletal anomalies in a 3-year-old boy.A patient with multiple congenital anomalies (sagittal craniosynostosis, complex of vertebral anomalies, additional left cervical rib at the C-7 level, common bifurcated head for the fourth and fifth left ribs, first right metacarpal hypoplasia, anomalies of the blood vessels of the upper extremities) and normal history of physical and mental development is presented.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |