Proximal phocomelia and radial ray aplasia in fetal valproic syndrome.
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.
Verloes
A
A
Center for Human Genetics, C.H.U. Sart Tilman, Liège, Belgium.
Frikiche
A
A
Gremillet
C
C
Paquay
T
T
Decortis
T
T
Rigo
J
J
Senterre
J
J
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*
D014635:Valproic Acid