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We report a case of mental retardation associated with multiple congenital anomalies suggesting an F.G. syndrome. We discuss problems concerning genetic counselling and the management of future pregnancies. Unfortunately, no concrete strategy, concerning prenatal diagnosis, can be proposed.

The polymerase chain reaction is a new powerful method for in vitro cloning of specific regions of DNA. The use of the heat-stable DNA polymerase made the reaction amenable to automation. This method greatly facilitates the detection of mutations which are responsible for Duchenne muscular dystrophy, via DNA amplification of multiple deletions prone exons from the DMD gene.

A case is reported of a term newborn with intra uterine growth retardation and numerous malformations such as complex heart disease, abnormalities of distal limbs, cleft palate. Death occurred after two days. The diagnosis of rubella embryopathy was confirmed by the following criteria: a high level of rubella antibodies in mother and newborn (1/1000) an isolation of rubella virus from the infant's urine. Diagnosis of rubella after reinfection was documented by a high level of antibodies in the mother three years before this pregnancy. Other observations reported in literature confirm the extreme rarity of congenital rubella after reinfection.

A case of uncommon genital lymphedema in a newborn girl like a pseudo sexual ambiguity is reported. The karyotype was 46, XX. Lymphedema of the lower limbs in the patient and in the mother's family confirmed a None-Milroy disease. Different considerations about genetic counseling in hereditary lymphedema, isolated or associated with others anomalies, are developed.

Case-report of neonatal Marfan Syndrome with at birth the following observations: arachnodactyly, excessive length of arm, cardiac anomalies with hemodynamic troubles leading to death within 4 days. Anatomical data of the postmortem examination and histologic anomalies of the aorta confirm the diagnosis. No case of Marfan syndrome are to be found among forebearers. These characteristics underline the rarity, the gravity of the pronostic and the often sporadic appearance of the Marfan syndrome when revelated in the neonatal period.

Fetal alcoholism induces an extremely wide spectrum of embryopathies. In addition to the classical fetal alcohol syndrome, alcohol is also the cause of numerous fetal malformations. A case of Conradi-Hünermann type chondrodysplasia punctata is reported. Maternal alcohol ingestion was reported during gestation.