Document Detail


Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family.
MedLine Citation:
PMID:  20196403     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Turkish journal of pediatrics     Volume:  51     ISSN:  0041-4301     ISO Abbreviation:  Turk. J. Pediatr.     Publication Date:    2009 Nov-Dec
Date Detail:
Created Date:  2010-03-03     Completed Date:  2010-03-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417505     Medline TA:  Turk J Pediatr     Country:  Turkey    
Other Details:
Languages:  eng     Pagination:  631-6     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey.
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MeSH Terms
Descriptor/Qualifier:
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:
0/Anticonvulsants; 99-66-1/Valproic Acid

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