Multiple congenital malformations including generalized hypertrichosis with gum hypertrophy in a child exposed to valproic acid in utero.
Fetal valproate syndrome results from in utero exposure to valproic acid. It is characterized by a distinctive facial appearence, a cluster of minor and major anomalies, and central nervous system dysfunction. We report on a child exposed prenatally to valproic acid with unusual anomalies. This patient was the first child of young parents. Mother had several generalized seizures one year before this pregnancy, and since than she took valproic acid. Pregnancy was otherwise uneventful. At birth physical examination showed generalized hypertrichosis sparing palms and soles, coarse face, gum hypertrophy, hypotonia, club feet and club hands, two annular constrictions of the right lower leg, and abnormal dermatoglyphics. Skeletal X-rays were normal. Gum hypertrophy and hypertrichosis may be part of a broader pattern of altered morphogenesis in fetus exposed to valproic acid or this patient had two conditions, fetal valproate syndrome and hypertrichosis with gum fibromatosis.
Stoll
C
C
Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France. Claude.Stoll@chru-strasbourg.fr
Audeoud
F
F
Gaugler
C
C
Bernardin
A
A
Messer
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D000927:Anticonvulsants / Q000008:administration & dosage / Q000009:adverse effects*; D003878:Dermatoglyphics; D004827:Epilepsy / Q000188:drug therapy*; D017809:Fatal Outcome; D005260:Female; D005881:Gingiva / Q000473:pathology*; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics*; D006984:Hypertrophy / Q000235:genetics / Q000473:pathology; D007231:Infant, Newborn; D009035:Mothers; D011247:Pregnancy; D011297:Prenatal Exposure Delayed Effects; D014635:Valproic Acid / Q000008:administration & dosage / Q000009:adverse effects*
D000927:Anticonvulsants; D014635:Valproic Acid