| Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family. | |
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MedLine Citation:
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PMID: 20196403 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Baller-Gerold syndrome (BGS) is characterized by craniosynostosis and preaxial upper-limb malformations, and it has an autosomal recessive inheritance. Valproate syndrome occurs after exposure to valproic acid in utero, and is characterized by trigonocephaly. Both syndromes can also present with other malformations. Herein, we report a female newborn and her brother who both had a history of fetal exposure to maternal anti-epileptic drugs, especially sodium valproate. On physical examination of the female patient, craniosynostosis, trigonocephaly, right radius aplasia and hypoplastic thumb, and cardiac and renal malformations were determined, and she was diagnosed with BGS phenotype. The brother's examination revealed trigonocephaly, polymastia and hypospadias, and he was diagnosed with valproate syndrome. Based on these patients, we aimed to add further evidence in the literature indicating that the use of sodium valproate alone and in combination with other anti-epileptic drugs throughout pregnancy can increase the risk of serious fetal congenital malformations depending on the doses. |
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Authors:
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Ozmert M A Ozdemir; Ilknur Kili?; Tamer Ozsari; B Alper Kili?; Laurence Faivre; Bernard Aral; Dolunay G?rses; C Nur Semerci |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Turkish journal of pediatrics Volume: 51 ISSN: 0041-4301 ISO Abbreviation: Turk. J. Pediatr. Publication Date: 2009 Nov-Dec |
Date Detail:
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Created Date: 2010-03-03 Completed Date: 2010-03-30 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0417505 Medline TA: Turk J Pediatr Country: Turkey |
Other Details:
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Languages: eng Pagination: 631-6 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Anticonvulsants / toxicity Child Craniosynostoses / chemically induced*, radiography Diagnosis, Differential Epilepsy / drug therapy Family* Female Follow-Up Studies Humans Infant, Newborn Male Pregnancy Pregnancy Complications Pregnancy Outcome Prenatal Exposure Delayed Effects* Syndrome Tomography Scanners, X-Ray Computed Upper Extremity Deformities, Congenital / chemically induced*, radiography Valproic Acid / toxicity* |
| Chemical | |
Reg. No./Substance:
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0/Anticonvulsants; 99-66-1/Valproic Acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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