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Biomedical subjects

L Larget-Piet

Publications and source records attributed to L Larget-Piet.

At least 37 records · Page 2Linked to original sources
PubMed1979

[Branchio-oto-renal malformation syndrome (author's transl)].

After a brief review of the dysgenetic abnormalities which may affect the ear, branchial arches and pouches and the kidneys, the authors summarise those syndromes associating abnormalities of the ear and kidney on the one hand, and secondly abnormalities of the ear and facial and cervical fistulae. However, they are specifically interested in the branchio-oto-renal syndrome, reporting 5 cases. The syndrome combines deafness (middle ear and inner ear), pre-auricular and cervical fistulae and renal abnormalities. They attempt to summarise the syndrome by combining these 5 cases with the 15 published previously (4 initial cases of Melnick in 1974, 4 cases of Fitch in 1976, 7 of Fraser in 1978). The genetically transmissible nature of the syndrome would appear to be beyond doubt. The branchio-oto-renal syndrome was described for the first time in 1974 by Melnick, Bixter and Silk, who reported its existence in a father and three of his children, with an association of a malformation of the middle ear (block of the stapes), of the inner ear (cochlear hypoplasia), bilateral pre-auricular fistulae, bilateral cervical fistulae and renal hypoplasia with or without displasia. In 1974, Fitch and Srolowitz reported 4 new cases, and Fraser, Ling, Ologe and Nogrady a further 7 in 1978. The 5 cases published here bring the total known number to 20.

Abnormalities, Multiple↗
PubMed1978

[Rudiger (E. E. C.) syndrome: report of a case associated with atopic dermatitis (author's transl)].

The syndrome of ectrodactyly, ectodermal dysplasia and cleft lip-palate is described in a boy aged 3; although inherited in most cases as an autosomal dominant trait, it seems here to be sporadic. An atopic dermatitis clinically evident and particularly resistant to treatment is present, but IgE level is not raised. Ophthalmologic changes are prominent. Systematic intravenous pyelogram showed urinary tract strictures.

Child, Preschool↗
PubMed1977

[Krabbe's disease].

Explore the source record for details and available documents.

Clinical Enzyme Tests↗
PubMed1975

[Prenatal diagnosis of genetic diseases. Results of 57 early amniocenteses].

The authors report the results of anmiocenteses carried out early in 57 cases, in order to detect hereditary disorders in high risk pregnancies. They emphasize the necessity of prior genetic consultation and obstetric examination. Among the 57 cases, 53 had the examination carried out in order to seek a chromosome anomaly. The techniques of removal and culture are described. One pregnancy was interrupted, the foetus had a chromosome abnormality. The psychological aspect and the necessity of close cooperation between gynecologists and geneticians are discussed.

Adult↗