Ricardo Santos de Oliveira1, Elizabeth Lajeunie, Eric Arnaud, Dominique Renier. 1. Division of Pediatric Neurosurgery, Department of Surgery and Anatomy, Hospital of Clinics, Faculty of Medicine Ribeirão Preto, University of São Paulo, Av. Bandeirantes 3900, 14049-900 Ribeirão Preto, São Paulo, Brazil. rsoliveira@e-childrensbrain.com
Abstract
CASE REPORT: 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. REVIEW OF THE LITERATURE: 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. CONCLUSIONS: Our case series suggests for the first time that fetal sodium valproate exposure may also cause this phenotype.
CASE REPORT: 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. REVIEW OF THE LITERATURE: 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. CONCLUSIONS: Our case series suggests for the first time that fetal sodium valproate exposure may also cause this phenotype.
Authors: R Sharony; A Garber; D Viskochil; R Schreck; L D Platt; R Ward; B A Buehler; J M Graham Journal: Prenat Diagn Date: 1993-10 Impact factor: 3.050