Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature

• Published in: Child's nervous system Vol. 22; no. 1; pp. 90 - 94
• Main Authors: Santos de Oliveira, Ricardo, Lajeunie, Elizabeth, Arnaud, Eric, Renier, Dominique
• Format: Journal Article
• Language: English
• Published: Germany 01-01-2006
• Subjects: Craniosynostoses - chemically induced; Craniosynostoses - pathology; Craniosynostoses - radiotherapy; Female; Humans; Infant; Pregnancy; Prenatal Exposure Delayed Effects; Radiography; Review Literature as Topic; Tomography Scanners, X-Ray Computed; Upper Extremity Deformities, Congenital - chemically induced; Upper Extremity Deformities, Congenital - diagnostic imaging; Upper Extremity Deformities, Congenital - pathology; Valproic Acid - toxicity
• ISSN: 0256-7040; 1433-0350
• DOI: 10.1007/s00381-004-1089-x

We report three patients with a history of maternal valproate use during pregnancy who presented with a combination of metopic suture synostosis and upper limb malformations, which could be diagnosed as Baller-Gerold syndrome (BGS). The patients underwent surgical treatment for the craniofacial deformity, during which standard frontocranial reconstruction was performed.
Only 32 patients have been reported in the world literature and these cases support the emerging view that BGS is not a distinct syndrome, but should instead be considered to be an heterogeneous phenotype with variable etiology.
Our case series suggests for the first time that fetal sodium valproate exposure may also cause this phenotype.