Tuesday, August 10, 2010

A Neonate with Dysmorphic Facial Features


A boy is born with a distinctive dysmorphic facial appearance to a mother with known epilepsy, who has been treated throughout the pregnancy with Valproic Acid.
Note the characteristic physical appearance.


  1. Fetal valproate Syndrome.

    Typical features can be seen in this baby are swallow philtrum, medial deficiency of eyebrow, long upper lip, broad nasal root etc. Valproic acid which is taken during pregnancy will cross the placeta and exert teratogenic effects on the fetus, leading to malformation and dysmorphic features of the baby.

  2. Should have kept the credit & link to Medscape.com though. There are much more info given regarding this case.

  3. Yup, it is the latest CME Case study from Medscape :-) Here you go for the information.

  4. A 29-year-old woman has given birth to a boy with a dysmorphic facial appearance. The boy was born at full-term gestation by cesarean delivery. The mother has epilepsy characterized by tonic-clonic seizures, with her first episode occurring in her early teenage years. She pursued a planned pregnancy knowing that a child born to a woman with epilepsy on anticonvulsants is at a higher risk for birth defects. Before conceiving the baby, the mother took 5 mg of folic acid per day. During her pregnancy, she had been taking 750 mg of valproic acid (VPA) twice a day (the upper limit of the safe dose) to control her seizures. She requested genetic counseling to determine whether her unborn child would be affected. At 12 weeks’ gestation she was referred for routine prenatal ultrasonography, and she agreed to undergo a quad screening test (alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol markers). Fetal monitoring was performed with ultrasonography to gauge fetal growth, check for possible congenital malformations, and assess the amniotic fluid volume. The ultrasound examination at 17 weeks’ gestation revealed a few abnormal features suggesting a numeric chromosomal disorder, but the fetus was also found to be small for gestational age. As a result, amniotic fluid samples were taken to perform prenatal cytogenetic diagnosis. Pregnancy options, including termination, were discussed with the parents, with the decision by the parents to continue the pregnancy.

    The result of the quad test was positive. Quantitative fluorescent polymerase chain reaction was used for prenatal detection of chromosomes 13, 18, and 21 and of X and Y aneuploidies. This test was chosen because it provides reliable results that are available in a few hours after sampling; in addition, it requires only small fetal samples (1.5 mL amniotic fluid). The test showed a normal number of chromosomes. The conventional karyotype indicated a normal male: 46, XY. The ultrasound scans excluded malformations of the heart and internal organs. On physical examination following birth, the baby has a distinctive facial appearance that includes a tall and prominent central forehead; a low hairline; median deficiency of eyebrows; ocular hypertelorism; epicanthal folds; a low nasal bridge, with a short upturned nose; midface hypoplasia; low-set ears; and micrognathia. The child is also noted to have a short neck and broad hands and feet (Figures 1, 2, and 3). The neurologic examination reveals the presence of both central and peripheral hypotonia.

  5. You can continue to read for further discussion about this case in Medscape. Kindly log on to