title: Proximal phocomelia and radial ray aplasia in fetal valproic syndrome.
abstract: We describe a child with multiple congenital anomalies born to a women treated with valproic acid (1000 mg/day) for post traumatic epilepsy. Defects included the typical dysmorphism of the "fetal valproic syndrome", bilateral radial ray aplasia, unilateral proximal phocomelia of the upper limb, kidney hypoplasia and brain atrophy. A direct teratogenic effect of valproic acid is suspected on an experimental basis, and validated by two previous reports of radial defects after valproic acid exposure.
authors.affiliation: Center for Human Genetics, C.H.U. Sart Tilman, Liège, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: A
authors.initials: A
authors.lastname: Frikiche
authors.forename: C
authors.initials: C
authors.lastname: Gremillet
authors.forename: T
authors.initials: T
authors.lastname: Paquay
authors.forename: T
authors.initials: T
authors.lastname: Decortis
authors.forename: J
authors.initials: J
authors.lastname: Rigo
authors.forename: J
authors.initials: J
authors.lastname: Senterre
mesh_terms: D000014:Abnormalities, Drug-Induced; D000015:Abnormalities, Multiple / Q000139:chemically induced*; D001842:Bone and Bones / Q000002:abnormalities*; D004480:Ectromelia / Q000139:chemically induced*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011884:Radius / Q000002:abnormalities*; D014635:Valproic Acid / Q000009:adverse effects*
chemical_list: D014635:Valproic Acid