Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study.

Objective: Alveolar capillary dysplasia (ACD) is one of the causes of pulmonary hypertension. Its diagnosis is histological but new pathogenetic data have emerged. The aim of this study was to describe a French cohort of patients with ACD to improve the comprehension and the diagnosis of this pathology which is probably underdiagnosed.

Variable phenotypic expression of Apert syndrome in monozygotic twins.

Apert syndrome in monozygotic twins can lead to different phenotypic expression of the disease in the two fetuses. Apert syndrome can be associated with congenital left diaphragmatic hernia and cleft palate.

[Prenatal diagnosis of neural tube defects: Correlation between prenatal and postnatal data].

Objectives: Neural tube defects (NTD) are congenital anomalies that can cause significant neurological long-term disabilities. Theses malformations are accessible to prenatal diagnosis and quite recently, to in utero repair for some myelomeningoceles. The aim of this study was to analyse the correlation between prenatal and postnatal examinations.

WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.

WWOX has been recently implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy (EOEE). By array comparative genomic hybridization, we identified a 0.6 Mb homozygous deletion in 16q23.

The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies.

Unlabelled: The Antley-Bixler syndrome is characterized by premature closure of coronal and lambdoidal sutures, proptosis, depression of the nasal bridge, brachycephaly, radio-humeral synostosis and bowing of ulnae and femora associated with fractures. Most cases have been reported after birth with only one case diagnosed prenatally after recurrence of this autosomal recessive syndrome. The two present cases are of interest because of prenatal diagnosis of renal agenesis in the first case and early detection of clinical signs during the second pregnancy.

Effect of clofibrate on the peroxisomes of the intestine of the rat during foetal development.

The aim of the present work was to study the action of clofibrate, known as peroxisomal proliferator, on the intestinal peroxisomes in the foetus of treated pregnant females. The Novikoff technique (catalase activity detection) shows an increase in the number and size of intestinal peroxisomes in the treated females and in the foetus. Significant differences were observed between enterocyte peroxisomal enzymatic activities (catalase and PBE: peroxisomal bifunctional enzyme) in treated and control females on the one hand, and in the foetus of treated and control mothers on the other.

[A Buschke and Lowenstein tumor in a female patient].

Although it presents clinically as a malignant formation, the Buschke-Lowenstein tumour is known to be a histologically benign tumour caused by a papillomavirus infection from an condyloma acuminatum. The Buschke-Lowenstein tumour is generally observed in male subjects, usually on the penis, and rarely occurs in women. A female case is reported.

[Gastroesophageal reflux associated with pseudohypoaldosteronism in a month old child. Report of a family case].

A patient was diagnosed with pseudohypoaldosteronism on the basis of hyponatremia with salt depletion and presence of pseudoaldosteronism in a cousin. Diagnosis was complicated by the fact that the patient had failure to thrive caused partly by gastroesophogeal reflux.