[Value of fetal echocardiography in screening for congenital heart diseases. Report of 1,049 consecutive examinations]. / Intérêt de l'échographie cardiaque foetale dans le dépistage des cardiopathies congénitales. A propos de 1,049 examens consécutifs.

Specialised antenatal echocardiographic screening has allowed 1049 consecutive examinations in 992 patients resident in the Aquitaine region over a period of nine years. The most frequently encountered indications are expertise (suspicion of cardiopathy during initial screening) and family history. Expertise allows a higher detection rate (46.5%) compared to the other indications. We have screened 150 cardiopathies in utero and among them 143 were able to followed up after delivery. We have noticed a much greater severity of the anomalies compared to those encountered in paediatric cardiology. An associated chromosomal anomaly was noticed in 9% of cases and more frequently for atrio-ventricular communication and conotruncal cardiopathies. The rate of abortion was 35%, and the mortality for the surviving pregnancies was elevated (35%). Pharmacological treatment was instituted in 95% of cases of sustained supraventricular tachycardia with 81% successful. Diagnosis errors concerned benign cardiopathies above all and did not change the management of the pregnancy. The sensitivity of fetal echocardiography was 93.1% and its specificity 99.1%. This study shows the viability of fetal cardiac echography for the detection of the majority of congenital cardiopathies in a population at risk and in the management of fetal cardiac rhythm disorders. Nevertheless it remains a specialised examination for which the performance depends much on the initial screening performed by gynaecologists. Although the mortality rate of the screened children is elevated, indicating the frequent parental choice of abortion and the complexities of the cardiopathies, antenatal diagnosis has allowed optimisation of the neonatal management for certain curable cardiopathies.

Heterochromatin and cytogenetic polymorphisms in Cebus apella (Cebidae, Platyrrhini).

Cytogenetic studies have been carried out in 39 specimens of C. apella of different origins. Three different morphologies, one affecting the long arm of chromosome 4 and two affecting pair 17, have been detected. In each case, they can be related by paracentric inversions. Heterochromatin polymorphisms affecting terminal or interstitial C+ regions have also been observed. The length of the terminal heterochromatic region in the long arms of chromosome 11 is variable in C. apella sp., in C. a. paraguayanus and absent in the C. a. nigritus specimens studied. Interstitial C + bands can be observed in the long arms of the biarmed chromosomes 4 and 6, and in the long arms of the acrocentric pairs 12, 13, 17, 18, 19, 20, and 21. Interstitial C + bands in the long arms of chromosomes 4, 12, 17, and 19 are present in all animals studied, although their size is variable, especially in the case of chromosomes 17 and 19. © 1995 Wiley-Liss, Inc.

[Congenital atrichia with cysts]. / Atrichie congénitale avec kystes.

INTRODUCTION: Congenital atrichia with papular lesions is a rare congenital ectodermic dysplasia. CASE REPORT: A male child had atrichia of the scalp and eyebrows from birth. The atrichia was associated with epidermic cystic lesions of the scalp. Biopsy showed cystic piler follicles within the derma surrounded with an inflammatory infiltration of multinucleated giant cells. DISCUSSION: In most reported cases, scalp hair is present at birth and then falls within the first three months of life. Follicular cysts appear later. This syndrome generally occurs sporadically and the mode of inheritance is unknown.

[Iatrogenic Cushing syndrome in infants. Report of a case with dwarfism]. / Syndrome de Cushing iatrogène du nourrisson. Une observation avec nanisme.

We report a case of iatrogenic Cushing syndrome with dwarfism (-6 SD) in an eight-month-old infant. The respective role of exposure to corticosteroids in utero (the mother took 30 mg prednisolone per day throughout pregnancy) and postnatally (oral prednisolone, prednisolone in breast milk, and betamethasone cream) is discussed. Two other features are pointed out, i.e. presence of a food allergy and favorable outcome under hydrocortisone therapy.