[Aglossia adactylia syndrome with anterior maxillo mandibular fusion: a case report]

The hypoglossia-hypodactylia syndrome [Hanhart syndrome] is a congenital birth defect. The major features of this syndrome are a reduction in tongue size, micrognathia, limb anomalies and many occasional other anomalies. The neurosensorial development is preserved: We report a particular case with anterior maxillo-mandibular fusion. The patient, a male neonate, was the third child of a 42 year old woman. There was parental consanguinity but no similar cases in the family. The physical examination at birth revealed an eutrophic newborn with facial dysmorphia, impossibility of opening the mouth, aplasia of the fingers on the level of the metacarpo-phalangeal articulations and apodia. Computed tomography scan noted anterior maxillo mandibular fusion, glossopalatine ankylosis and cleft palate. The chromosomic chart, cardiac echography and transfontanellar ultrasound scan were normal. The Hanhart syndrome is a rare malformatif syndrome, grave because of the limbs reductionnal anomalies and feeding difficulties. The etiopathogeny is unknown; drug-taking during the pregnancy, genetic and vascular theories has been implicated

[Neonatal screening of congenital toxoplasmosis. Prospective study]

While toxoplasmosis infection in women is often benign, transmission of maternal infection to the fetus can lead to severe sequelae. Because the majority of patients with acute toxoplasmosis are asymptomayic, a systematic serologic screening program will needed with monthly serologic screening of all seronegative pregnant women until delivery. The aim of this study was to identify cases of congenital toxoplasmosis among all live births of women found to be seronegative in pregnancy once at least. During a prospective study period of 16 months [from 07/02/2003 to 30/06/2004] we conduct a neonatal screening of all live births of women found to be seronegative in pregnancy once at least. Peripheral samples were obtained from every couple mother/ infant. Serological methods performed for diagnosis of toxoplasma specific IgM and IgG antibodies were Hemaglutination and Enzyme-linked immunosorbent assay [ELISA]. Four cases of congenital toxoplasmosis were diagnosed after birth. All cases were asymptomatic and a specific treatment was started soon after diagnosis. The clinical and serologic evolution was normal in three cases. A serologic rebound at two years was reported in one case with a chorioretinitis in the examination of the ocular fundus. Neonatal as well maternal screening during pregnancy and at birth should be systematic to prevent, diagnose and treat early the affected neonates usually asymptomatic

[Prenatal gastrointestinal bleeding caused by oesophagitis]

Upper gastrointestinal tract bleeding in the neonate is usually related to gastritis and esophagitis. Fewer cases of prenatal gastrointestinal tract bleeding diagnosis are reported, showing that gastric peptic lesions can occur in the prenatal period. We report a case of a prenatal oesophagitis revealed at 35 weeks of gestation by the presence of bloody amniotic fluid that was confirmed by endoscopy at birth

[Fifth day fits about a cases report]

Fifth day fits are rare, their incidence is very variable because of a difficult diagnosis. They were first decrived by Dehan and Navelet using the following criteria: occurrence of electro clinical seizures on the fifth day of life in a term newborn, with no pathological event. Inter-ictal tracing showed 'sharp alternant theta', aetiological investigations are negative and long-term outcome is favourable. Causes of fifth day fits are unknown. Responsibility of disturbances of brain maturation are advanced. We report a case complying with the preceded criteria. This case is a female term newborn who presented repetitive clonic seizure appearing on the fifth day of life and resisted to phenobarbital therapy. The special tracing of encephalography showing "sharp alternant theta" is noted. The aetiological research is negative and the outcome is favourable until the age of 18 months

[Campomelic dysplasia a case report]

Campomelic dysplasia is a skeletal disease, first reported by Bound. The clinical feature associates stature deficiency bowing of tibia associated with agenesis of toes. Diagnosis is based on radiological features showing bowed tibia, fibula aplasia with skeletal dysplasia, nanow chest. We report one case confirmed radiologically

[Aplasia cutis congenita [ACC] about two cases]

Aplasia cutis congenita is a congenital condition in which skin, bone, and dura can be absent with an estimate incidence of 1 in 10,000 births. The lesions may occur on any body surface although localised agenesis of the scalp is the most frequent pattern It occurs as an isolated defect or with other associated anomalies. We report 2 cases of ACC, one isolated and another with associated malformations