Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family.
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.
Ozdemir
Ozmert M A
OM
Department of Pediatrics, Pamukkale University Faculty of Medicine, Denizli, Turkey.
Kiliç
Ilknur
I
Ozsari
Tamer
T
Kiliç
B Alper
BA
Faivre
Laurence
L
Aral
Bernard
B
Gürses
Dolunay
D
Semerci
C Nur
CN
D000328:Adult; D000927:Anticonvulsants / Q000633:toxicity; D002648:Child; D003398:Craniosynostoses / Q000139:chemically induced* / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D004827:Epilepsy / Q000188:drug therapy; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications; D011256:Pregnancy Outcome; D011297:Prenatal Exposure Delayed Effects; D011859:Radiography; D013577:Syndrome; D015898:Tomography Scanners, X-Ray Computed; D038062:Upper Extremity Deformities, Congenital / Q000139:chemically induced* / Q000000981:diagnostic imaging; D014635:Valproic Acid / Q000633:toxicity*
D000927:Anticonvulsants; D014635:Valproic Acid