[Two cases of congenital varicella syndrome: plea for the varicella vaccine]. / A propos de deux cas de varicelle congénitale: plaidoyer pour la vaccination des femmes en âge de procréer.

We describe two cases of congenital varicella. The first presented with cutaneous aplasia and scars; the second with skin abnormalities, limb atrophy, limb paresis, Horner's syndrome and liver calcifications: prognosis was poor in this case. After reviewing the published cases of congenital varicella, we advocate the use of varicella vaccine in seronegative women before pregnancy.

[Metopic craniosynostosis, probable effect of intrauterine exposure to maternal valproate treatment]. / La craniosténose de la métopique, effet probable de l'exposition intra-utérine à un traitement maternel par le valproate.

UNLABELLED: Metopic craniosynostosis may be an adverse effect of valproic acid exposed fetus. CASES: We report two infants with metopic craniosynostosis, born to mothers who were treated with valproic acid. In one case, a prenatal diagnosis was made. In the other case, only the male dizygotic twin was affected. CONCLUSION: Trigonocephaly may be a symptom of valproate embryofoetopathy detectable by antenatal ultrasound examination.

[Hemolytic anemia in a newborn after maternal treatment with nitrofurantoin at the end of pregnancy]. / Anémie hémolytique chez un nouveau-né après prise maternelle de nitrofurantoïne en fin de grossesse.

UNLABELLED: Drug administration during the last trimester of pregnancy may have adverse effects for the newborn. CASE REPORT: A hemolytic anemia occurred during the first hours of life in a full-term neonate whose mother had taken nitrofurantoin during the last month of pregnancy. CONCLUSION: The immature enzymatic systems of the neonate are exposed to this adverse effect and justify the recommendation not to prescribe nitrofurantoin at the end of pregnancy.

[Association of aplasia cutis congenita with coarctation of the aorta: a coincidence?]. / Association d'une aplasie cutanée congénitale et d'une coarctation de l'aorte: association fortuite?

UNLABELLED: The association of aplasia cutis congenita and aortic coarctation could be a coincidence. CASE REPORT: A neonate was born with an aplasia cutis congenita in the midline of the scalp. When she was two months old, an aortie coarctation was detected and surgically resected. Spontaneously, the scalp gradually cicatrized. CONCLUSION: A search for a candidate gene in this second reported case is mandated.

[Early myoclonic epileptic encephalopathy and non-ketotic hyperglycemia in the same family]. / Encéphalopathie myoclonique précoce et hyperglycinémie sans cétose dans une même fratrie.

BACKGROUND: Neonatal myoclonic encephalopathy is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes. CASE REPORT: A girl, born from consanguineous parents, died from myoclonic epileptic encephalopathy at the age of 3 months. Screening for metabolic disease was negative, except for increased levels of urine serotonin and 5-hydroxyindol-acetic in cerebrospinal fluid, blood and urine. Two sisters died with non ketotic hyperglycinemia, corpus callosum agenesis and clubfoot. CONCLUSION: Familial occurrence of non ketotic hyperglycinemia and early myoclonic epileptic encephalopathy is uncommon.

[Hypoglossia, situs inversus and absence of the pituitary in a neonate: teratogenic effect of maternal hyperthermia?]. / Hypoglossie, situs inversus et absence d'hypophyse chez un nouveau-né: effect tératogène d'une hyperthermie maternelle?

UNLABELLED: Hypoglossia is a rare malformation that is not fatal, unlike otocephaly. CASE REPORT: A neonate, born at 39 weeks of GA and dead at 5th day showed hypoglossia, dextrocardia, situs inversus and pituitary aplasia. Maternal hyperthermia was observed at 4 weeks gestation. CONCLUSION: This case is reminiscent of a community of syndrome with agnathia-holoprosencephaly and situs inversus. The responsibility of maternal hyperthermia is raised.

Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation.

Balanced chromosomal abnormalities such as translocations and inversions have been identified in many genetic diseases. Cloning of the breakpoints involved in these abnormalities has led to the identification of the disease-related genes. Recent reports suggest the presence of a mental retardation locus at Xq11-12. We have identified a female patient with a balanced translocation t (X;12) (q11;q15) associated with mild mental retardation. We identified a yeast artificial chromosome spanning the X-chromosome breakpoint by using fluorescent in situ hybridization techniques. A cosmid library of this YAC has been constructed and the search for candidate genes is in progress.