PubMed Health⌕ Search

Biomedical subjects

F Rouault

Publications and source records attributed to F Rouault.

At least 19 recordsLinked to original sources
PubMed1998

[Congenital heart disease and nuchal translucency with normal karyotype. Report of 3 cases].

We report three pregnancies where enlarged nuchal translucency was discovered at the first trimester transvaginal ultrasound examination; congenital heart disease developed later. Two cases of hypoplastic left heart were diagnosed prenatally at the mid-trimester sonographic examination. The pregnancies were terminated. In the third case, a supravalvular pulmonary stenosis was discovered on the second day of life. Further investigations demonstrated a mutation on the elastin locus, thus confirming the diagnosis of Williams-Beuren syndrome. The role of nuchal translucency as a risk marker for congenital heart disease is discussed.

Cardiomegaly↗
PubMed1996

[Microdeletion of the chromosome 22q11 in children: apropos of a series of 49 patients].

UNLABELLED: Most of the children with Di George syndrome and 60% of patients with velocardiofacial syndrome exhibit a microdeletion within chromosome 22q11. The phenotypic expression of this chromosomal abnormality is highly variable. PATIENTS: Forty-nine children, 0 to 15 years of age, were demonstrated as carriers of a 22q11 microdeletion. The main referral diagnoses were: Di George syndrome (19 cases), velocardiofacial syndrome (14 cases); congenital heart defect with dysmorphism (9 cases); hypoparathyroidism (2 cases). The microdeletion was detected by fluorescent in situ hybridization with probes specific of the 22q11 region. RESULTS: Facial dysmorphism was the only constant feature. A congenital heart defect was present in 84% of cases. Significant hypocalcemia was documented in 51% of cases and thymic hypo or agenesis in 83%. Significant immune deficiency was documented in nine cases. The most frequent associated defects were urinary tract malformations (8 cases). A cleft palate was present in height enfants but velopharyngeal insufficiency was almost constant. Two-thirds of children had psychomotor delay, and five children exhibited behavioral problems. Of the 35 couples of parents tested, eight mothers were found to be carriers of the deletion. CONCLUSION: For the pediatrician, it is essential to know the variability of the clinical picture. The long-term prognosis is conditioned by the possibility of mental retardation and learning disabilities. Parents should be tested for the presence of the deletion. The occurrence of the microdeletion in asymptomatic relatives raises difficult problems in genetic counselling.

Child↗
PubMed1994

Clinical and molecular study of DiGeorge sequence.

DiGeorge sequence (DGS) is a developmental field defect of the third and fourth pharyngeal pouches. The cardinal features of the syndrome are hypo- or aplasia of the thymus and parathyroids, congenital heart defect of the conotruncal type and characteristic facial dysmorphism. Such a pattern of malformations has been associated with various conditions but it is now well established that most cases of DGS are due to haplo-insufficiency of the chromosome 22q11 region. We report here a series of 16 patients, including a familial case. Minimal criteria for inclusion in this series were two or more of the following features: conotruncal heart defect, hypocalcaemia, hypoplastic/absent thymus and typical facial dysmorphism. Molecular analysis with specific probes of the 22q11 region was conducted in all patients according to two methods, fluorescent in situ hybridization and DNA dosage analysis. A deletion was found at the molecular level in all patients. We emphasize the fact that clinical analysis remains an important step of the diagnosis. The implication of these molecular techniques on diagnosis, prognosis and genetic counselling of DGS are discussed.

Child, Preschool↗
PubMed1985

[Behçet's disease in a 2-year-old girl].

The authors report a case of gangrenous stomatitis with lingual and anal ulcers and pericarditis in a 2-year-old girl. They propose the diagnosis of Behçet's syndrome for this patient despite the absence of uveitis.

Behcet Syndrome↗
PubMed1980

[Physiological basis of fetal and neonatal circulation].

The extremely reduced nature of the pulmonary circulation, the parallel arrangement of the right and left sides of the heart, and the mixture of oxygenated umbilical blood with the rest of the venous return in the right atrium endow the foetal circulation with its "relatively protected" nature. Thus the majority of cardiac and pulmonary malformations have no effect or cause only minor circulatory disturbances. The transfer of respiratory function from the placenta to the lungs which becomes necessary as soon as the cord is clamped is a highly disturbing event. The pulmonary circulation must be established, the communications of foetal life close (Botal's foramen, ductus arteriosus), and the right and left heart function in series. Such adaptations, certain of which are essential to immediate survival, may require several weeks before completion. Any disease in the newborn, congenital or acquired, respiratory, circulatory, metabolic or other, is accompanied by numerous interwoven consequences. In particular, return to a foetal type circulation by increase or absence of pulmonary resistances could induce a right-left shunt through a fossa ovale which is only asking to open, or even through a ductus arteriosus which is only asking to reopen. Congenital diaphragmatic hernia is no exception is no exception to this rule.

Blood Circulation↗
PubMed1978

Cardiac catheterization by percutaneous femoral venous approach in infants weighing less than 5 kg: observations in 97 cases.

The technique of cardiac catheterization after percutaneous introduction of a catheter can now be accomplished in neonates thanks to the refinement of the equipment and to the physicians' experience. In 100 catheterizations performed in infants of less than 5 kg, the new technique was utilized 97 times. Thanks to the utilization of introducers it permits Rashkind atrioseptostomy. Its main advantage is the preservation of venous integrity and this allows repeat investigations through the same route.

Body Weight↗
PubMed1978

Transposition of the great arteries. New technique for anatomical correction.

We describe a new technique for the correction of transposition of the great arteries by "detransposition". An aortopulmonary window is created and a patch placed over this and the coronary ostia so that the coronary arteries arisen from the new aorta. Thus, direct surgery on the coronary arteries is avoided with all the complications which may result from this in neonates and infants. A 4.2 kg infant, with transposition and ventricular septal defect, was successfully operated on using this technique. We discuss the indications for this type of operation and conclude that, until we have more experience, it should be used only in children with a left ventricular pressure at least half systemic.

Heart Septal Defects, Ventricular↗
PubMed1976

[Sodium supply in operations under extracorporeal circulation in children].

In order to explain the edematous appearance found in infants after ECC associated with hyponatremia, the authors studied the supply of sodium per and post-operatively in 42 children aged from 11 days to 13 years undergoing correction of the cardiopathy under ECC. This study enables one to find that there is an inflation of sodium after intervention under ECC, which is even more important, the longer the duration of the ECC. It is not related to a failure in urinary excretion of Na+ and predominates in infants. It is related with the supply of sodium during transfusion and seems to be the cause of certain respiratory complications met with following ECC.

Cardiac Surgical Procedures↗