1/10. septo-optic dysplasia as a manifestation of valproic acid embryopathy.BACKGROUND: The use of valproic acid during pregnancy has been associated with adverse fetal outcomes, including major and minor congenital malformations, intrauterine growth retardation (IUGR), hyperbilirubinemia, hepatotoxicity, transient hyperglycemia, and fetal and neonatal distress. In addition, intrauterine exposure to valproic acid has been associated with an increased risk of central nervous system abnormalities, primarily neural tube defects. optic nerve hypoplasia has been reported in association with other prenatal anticonvulsant exposures, but the occurrence of septo-optic dysplasia as a manifestation of valproic acid embryopathy has not been reported previously. RESULTS: We report on a woman who received Depakote (valproic acid) throughout her pregnancy for the treatment of a seizure disorder. The patient presented with features typical of valproic acid embryopathy, including bitemporal narrowing, hypertelorism, short palpebral fissures, epicanthal folds, microphthalmia, a flat broad nasal bridge, small mouth, hypoplastic nails, mild clinodactyly, and camptodactyly. MRI showed hypoplasia of the optic chiasm and absence of the septum pellucidum. CONCLUSIONS: We report the first case of septo-optic dysplasia associated with maternal exposure to valproic acid throughout pregnancy. This case expands the clinical phenotype of valproate embryopathy.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
2/10. valproic acid and lamotrigine treatment during pregnancy. The risk of chromosomal abnormality.A baby born to an epileptic mother had dysmorphological features associated with 47,XXX karyotype. The mother had been treated with valproic acid (1800mg per day) and lamotrigine (100mg per day) throughout pregnancy. Dysmorphological features detected in baby were intrauterine growth retardation, hypertelorism, flattened nasal bridge, low set malformed auriculas, micrognathia, very small an bow-shaped mouth with thin upper lip, cleft palate, arachnodactyly, camptodactyly, secundum atrial septal defect, bilateral hammer toes and decreased creases on the soles. At 6 months old she showed motor retardation. The molecular analysis of parents revealed that extra x chromosome was inherited from the mother. In this case whether the dysmorphological features and 47,XXX karyotype were caused by lamotrigine and valproic acid treatment during pregnancy or coincidence is in question.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
3/10. Valproate embryopathy: clinical and cognitive profile in 5 siblings.Valproate embryopathy is a well recognized syndrome caused by prenatal exposure to the anticonvulsant valproic acid (Depakote). We report five half-siblings with the same mother (four different fathers) who all have valproate embryopathy. valproic acid was the sole anticonvulsant in all five pregnancies, with doses ranging from 500 to 2,000 mg per day. All children were examined by a clinical geneticist and developmental pediatrician, and had formal developmental testing. Mean birth weight at term was 2,900 g (range: 2,400-3,400 g). Common features in the five children included: flat, broad nasal bridge (5/5), hypoplastic midface (4/5), apparent hypertelorism/telecanthus (4/5), smooth philtrum (4/5), thin upper lip (5/5), long thin tapering fingers (4/5), hypoplastic 5th toenails (2/5), and irregularly placed toes (2/5). Less frequent features were micro/brachycephaly (2/5), cleft palate (1/5), duplication cyst of small intestine (1/5), and hemangioma (1/5). None had neural tube defect. Neuropsychologic testing of the three children older than 4 years of age showed cognitive ability in the low normal or borderline range (mean IQ = 83; range: 75-86), with significantly lower scores in adaptive behavior and motor skills. Study of this family offers insight into the potentially high risk of valproate embryopathy in exposed pregnancies, and affords a unique opportunity to study the variability of expression and cognitive profile of the syndrome within one family.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
4/10. Prenatal exposure to fluconazole: an identifiable dysmorphic phenotype.BACKGROUND: fluconazole is a triazole antifungal used to treat mycotic infections. fluconazole is reported to act as a teratogen when used continuously at a dosage of 400-800 mg daily. fluconazole embryopathy was previously reported in 4 cases. The common features that were also seen in the current case include multiple synostosis (including craniosynostosis and digital synostosis), congenital heart defects, skeletal anomalies, and recognizable dysmorphic facial features. CASE: We report the case of a 9-month-old male born to a 30-year-old woman following a 37-week pregnancy. The pregnancy was complicated by maternal human immunodeficiency virus (hiv) infection and multiple drug exposures, including fluconazole (400 mg/day) until the fifth month and then from 6 months to term, efavirenz, nevirapine, methadone, dapsone, pentamidine, and trimethoprim-sulfamethoxazole. At birth the infant had seizures related to neonatal abstinence syndrome and was noted to have multiple congenital anomalies. On examination at age 9 months, he had craniosynostosis secondary to coronal and lambdoidal suture closures, shallow orbital region, hypoplastic supraorbital ridges, hypertelorism, and mild ptosis. He had radioulnar synostosis and metacarpophalangeal-proximal interphalangeal symphalangism of D2-D5 bilaterally. CONCLUSIONS: The findings of cranial synostosis, multiple symphalangism, and long-bone abnormalities in our case are typical of other reported cases of fluconazole embryopathy. Our patient showed no evidence of embryopathy due to efavirenz, and he did not have the features of Antley-Bixler or other craniosynostosis syndromes. We review the literature regarding the teratogenic effects of prenatal exposure to fluconazole and provide additional evidence that prenatal fluconazole exposure has a clearly identifiable phenotype.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
5/10. Fetal hydantoin syndrome: a case report.An infant with features of fetal hydantoin syndrome, born to an epileptic mother, was followed from birth to 20 months of age. Physical findings included gum hypertrophy, digitalization of the thumbs, hypoplasia of the distal phalanges and nails, epicanthal folds, pseudohypertelorism, epidermoid cyst, and geographic tongue. Available literature about the disorder is reviewed.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
6/10. Abnormal genitalia as a presenting sign in two male infants with hydantoin embryopathy syndrome.Abnormal genitalia was a salient clinical finding in two unrelated male infants with the hydantoin embryopathy syndrome. Both infants also exhibited hypoplastic nails of fingers and toes, hypertelorism, and a flat nasal bridge, and one had severe developmental retardation. We review previously reported cases of the hydantoin embrypathy syndrome and discuss factors possibly affecting the teratogenicity of phenytoin. Male infants with findings such as the patients of this report need to be differentiated from patients with noonan syndrome and Aarskog syndrome. We suggest that mothers receiving phenytoin who have given birth to one affected infant should be given a different anticonvulsant for future pregnancies.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
7/10. The isotretinoin teratogen syndrome.Two infants with prominent frontal bossing, hydrocephalus, microphthalmia, and small, malformed, low-set, undifferentiated ears were born to mothers who had taken isotretinoin in the first trimester of pregnancy. A Dandy-Walker malformation, microcephaly, hypertelorism, small ear canals, cleft palate, small mouth, and congenital heart disease were also observed. isotretinoin is a potent teratogen in man; maternal ingestion early in pregnancy leads to a distinct clinical pattern of anomalies.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
8/10. Multiple congenital abnormalities in a newborn boy associated with maternal use of fluphenazine enanthate and other drugs during pregnancy.A boy was born with a short sloping forehead, wide metopic suture, persistent metopic fontanelle, telecanthus, ocular hypertelorism, nystagmoid eye movements, bilateral cleft lip and palate, imperforate anus, rectourethral fistula, bifid scrotum and an unusual penis with hypospadias. The neutrophil polymorphs had numerous nuclear projections. The pregnancy was complicated by chronic maternal schizophrenia, severe toxaemia and maternal use of fluphenazine enanthate, dicyclomine hydrochloride, doxylamine succinate, pyridoxine hydrochloride and other drugs. Details of mother's illness, pregnancy and drug usage are presented with the clinical findings and investigations.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
9/10. Fetal valproate syndrome with reduction deformity of limb.A case is reported of a female infant having multiple anomalies, including epicanthic folds, hypertelorism, bifid nasal bridge, shallow philtrum, low-set ears, brain atrophy, cleft palate, hemangioma on the chest, and reduction deformity of the left upper limb. This is the first case where an infant who was exposed to sodium valproate intra-uterine has a reduction deformity of the upper limb.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
10/10. growth retardation, dysmorphic facies and minor malformations following massive exposure to phenobarbitone in utero.A syndrome of facial dysmorphism, pre- and postnatal growth deficiency, developmental delay and minor malformations is described in two siblings. The facial anomalies consist of short nose with low nasal bridge, hypertelorism, epicanthic folds, ptosis of eyelid (patient 2), lowset ears, wide mouth with protruding lips and relative prognathism. Patient 2 in addition had a cleft soft palate and a hypoplastic phalanx of his fifth fingers. Both siblings were exposed to extraordinary high levels of phenobarbitone (5.0-8.6 mg/100 ml) in utero. The same clinical picture has been reported by others following use of phenytoin in pregnancy, and the term "fetal hydantoin syndrome" has been proposed. Since the syndrome seems to occur both following exposure to phenytoin and to phenobarbital this term should probably be avoided. This interesting coincidence indicates that the drugs may have a similar mechanism of action on the development of the fetus.- - - - - - - - - - ranking = 1keywords = hypertelorism (Clic here for more details about this article) |
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