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A Nivelon-Chevallier

Publications and source records attributed to A Nivelon-Chevallier.

46 records · Page 3Linked to original sources
PubMed1980

[Congenital malformations. 1,238 cases of malformed infants in a 25-year (1950 to 1974) continuous series of 49,665 deliveries. Epidemiological and statistical study].

In a study carried on 25 years and about 50 000 births, the authors analyse 1 238 malformed children, with two purposes: 1. to determine a maternal population with high risk of malformations, in order to have a better survey and to look for many anomalies before the birth: 2. to make a "portrait" of the malformed child in order to suspect the existence of congenital anomalies during the obligatory examination in neo-natal time.

ABO Blood-Group System↗
PubMed1978

[Sclero-atrophic keratodermal genodermatosis of the extremities (sclerotylosis) (author's transl)].

The authors report a new case of sclero-atrophic keratodermal genodermatosis of the extremities, which is frequently degenerative. This condition, described by Huriez et al. in 1967, is characterized by symmetric lesions of the hands and feet, sclerodactyly, keratodermia, onychopathy and hypohidrosis. This disease, which is of dominant autosomal transmission, is associated with the MNSs trait, the two genes being probably located on chromosome No. 2.

Foot↗
PubMed1977

Absence of distal interphalangeal fold causing difficulty in extending fingers.

A 13-year-old girl sought medical advice, saying that for two years it had been increasingly difficult for her to extend her little finger. An examination revealed that all her fingers, with the exception of her thumbs, had no interphalangeal fold. Her mother had less pronounced signs of the same type. This abnormality seemed to be the result of an autosomal gene with dominant transmission.

Adolescent↗
PubMedDate not supplied

Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis.

The Coffin-Lowry syndrome (McKusick No. 30360) is a rare genetically transmitted disorder characterized by severe mental retardation, "coarse" facial appearance, thick soft skin, tapering fingers, and progressive skeletal abnormalities. X-linked inheritance is implied since the males are severely affected with variably mild manifestations in carrier women. We have performed a linkage analysis with many X-linked RFLP markers in 4 families. Positive two-point lod scores were obtained with DXS28 (z(theta) = 2.00 at theta = 0.05) and DXS41 (z(theta) = 1.26 at theta = 0.10). We performed a 5-point linkage analysis using the LINKMAP program assuming that DXS16 and DXS43 are a single locus and using the following fixed map (distances in centimorgans): DXS85 - 18cM - (DXS16, DXS43) - 13cM - DXS41 - 5cM -DXS28. This gave a multipoint lod score of 3.41 for a localisation in Xp22.2-p22.1, between DXS43 and DXS41.

Bone Diseases, Developmental↗
PubMedDate not supplied

Association of Marfan's syndrome and Turner's syndrome.

We report on a 12 year-old girl with severe myopia, ectopia lentis, dilatation of the ascending aorta, protrusio acetabulae, arachnodactyly, scoliosis and moderate short stature (-1.7 SD). Her sister and father presented with Marfan's syndrome. Despite short stature, Marfan's syndrome could not be ruled out. Primary amenorrhoea and growth retardation indicated cytogenetic analysis which showed chromosomal aberration 45,X in every studied cell. However, she did not present any other clinical features of Turner's syndrome. We report here for the first time on an association of Turner's syndrome and Marfan's syndrome in the same patient, and discuss particular clinical features.

Adolescent↗