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Biomedical subjects

B Risbourg

Publications and source records attributed to B Risbourg.

At least 55 records · Page 3Linked to original sources
PubMed1979

[Retrograde carotid approach to aortography in neonates and babies: technique and results in 21 cases (author's transl)].

A new radiological technique is described for opacification of the thoracic aorta in neonates and babies weighing less than 10 kg. The exploration method is described: injection of a contrast medium after retrograde carotid puncture, and increased endothoracic pressure. The results obtained in 21 babies aged from 3 to 157 weeks, and weighing 3.3 to 10 kg are discussed. Radiographic results were excellent in 17 cases, satisfactory in 3 cases, and only moderate in 1 case. The procedure was perfectly well tolerated, and enabled visualization of an arterial canal in 4 cases, stenosis of a Blalock-Taussig anastomosis in 1 case, aortic stenosis in 7 cases (2 tubular hypoptasias, 1 coarctation, 3 segmentary interruptions, 1 recoarctation), coronary-cardiac fistula in 1 case, and a normal aorta in 9 cases. The authors review the advantages, inconveniences, and risks of the other methods of opacification of the thoracic aorta in neonates and babies. They conclude that when right cardiac catheterization cannot give, in babies under 10 kg of weight, a satisfactory radiological assessment of the thoracic aorta in the following clinical conditions: coarctation syndrome, badly tolerated left-right shunt, or possible abnormality of the aortic arch or coronaries, the technique of opacification of the thoracic aorta by retrograde puncture of the common carotid is the best radiological method for establishing a definite diagnosis.

Age Factors↗
PubMed1979

[The cerebro-oculo-facio-skeletal syndrome].

A further case of the cerebro-oculo-facio skeletal syndrome is described. The child, the first of healthy parents with no significant family history, died on the 4th day of life because of renal failure and respiratory difficulties. The dysmorphic features were microcephaly, microphthalmia, high nasal bridge, lax skin with a prominent skin fold extending below the eyes, large upper lip, fixed flexion deformities of the limbs, short fingers with campodactyly, talus valgus and longitudinal plantar groove. At autopsy there was renal agenesis, a hypoplastic bladder, bilateral cataract with atrophy of the iris and retina. The relationship between Potter's syndrome and other oculo renal syndromes are discussed. The diagnosis is important because this syndrome is inherited as an autosomal recessive.

Abnormalities, Multiple↗
PubMed1977

[Lack of attachment of the superior vena cava to the mediastinum. Apropos of 2 cases].

Two cases in which the superior venae cavae ran an extramediastinal course are presented. This abnormality, which was discovered on catheterisation, had no haemodynamic consequences. It consisted of two superior venae cavae with little or no intermediate trunk; this explains the lack of attachment' of the superior venae cavae to the mediastinum.

Cardiac Catheterization↗
PubMed1977

[Carpenter's syndrome].

A newborn boy presented with an acrocephaly characterized by a coronal craniosynostoses, open sagittal sutures and abnormally high and straight forehead. He was the only child of young, unrelated, healthy parents; there was no familial history of dysmorphy. Facial asymmetry was important and associated with posterior cleft palate, syndactylia of the tips and polydactylia of feet, due to a splitting of the first metatarsus. The child also had a congenital heart disease, like in half of the 15 published cases. In older children, mental retardation is usually observed, often associated with obesity and hypogonadism. Polydactylia permitted to exclude Apert's acrocephalosyndactylia in which there is a normal number of finger arms and which seems to be a dominant mutation, while the transmission of Carpenter's syndrome appears autosomal recessive, thus requiring restrictive genetic counselling.

Abnormalities, Multiple↗
PubMedDate not supplied

[Bone dysplasia with dwarfism and diffuse skeletal alterations].

Six cases of a new hereditary chondrodyplasia are reported. The features are severe dwarfism, generalized hypotonia, frequent and considerable desaxations of fingers and toes. Slight facial dysmorphism with evolutive scoliosis is often associated. Osteopetrosis is diffuse and is associated with important metaphyseal widening as well as epiphyseal irregularities and often carpal and tarsal supernumerary bones. No metabolic or chromosomal abnormality was found. The relations of the disease with related types described in Larsen's syndrome are considered.

Abnormalities, Multiple↗