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Biomedical subjects

C Moraine

Publications and source records attributed to C Moraine.

At least 91 records · Page 5Linked to original sources
PubMed1978

[Hemifacial microsomia and cardiac malformations. Apropos of 2 cases].

The authors report two cases of infants with complex heart disease comprising transposition of the great vessels, and a major unilateral facial anomaly involving the ear and the mandible, conforming to the description of hemifacial microsomia. The facial anomalies seen are defined and placed in the classification of known syndromes. The incidence of heart disease associated with facial microsomia is about 20% and in 2/3 of cases it is a ventricular septal defect or a tetralogy of Fallot. An analysis of aetiological factors shows that syndromes of the first two branchial arches are usually sporadic and that they may be the result of intra-uterine disease. The mechanism of the facial lesions is probably vascular.

Abnormalities, Multiple↗
PubMed1972

[Trisomy 13].

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMedDate not supplied

Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation.

We have recently shown that mutations in oligophrenin-1 (OPHN1) are responsible for non-specific X-linked mental retardation (MRX). The structure of the gene encoding the OPHN1 protein was determined by isolation of genomic DNA clones from the human cosmid library. Genomic fragments containing exons were sequenced, and the sequences of the exons and flanking introns were defined. Knowledge of the genomic structure of the OPHN1 gene, which spans at least 500 kb and consists of 25 exons, will facilitate the search for additional mutations in OPHN1. OPHN1 was screened for mutations in 164 subjects with non-specific mental retardation. Three nucleotide substitutions were identified, one of which was a silent mutation in the codon threonine 301 at position 903 (G-->C). The other substitutions were located in exon 2, a G-->A substitution at position 133 (A45T), and in exon 10, a C-->T substitution at position 902 (T301M), but these are common polymorphisms rather than disease-causing mutations.

Amino Acid Substitution↗
PubMedDate not supplied

[What place is given to autopsy in cases of perinatal death?].

The authors studied two series of deaths (437 cases in all), one from a prospective study on the Centre region and the other from a retrospective study on the Tourangelle region; they compared the clinical and paraclinical data recorded during pregnancy, labour and the neonatal period to the autopsy results and those of the different tissue examinations, and strived to define the most judicious indications for autopsies in case of perinatal death. From their conclusions, based on the clinical context of the death, 5 different types of situations can be distinguished: for two of them, namely the medico-legal context and the malformation context, the post mortem examination seems indispensable for different reasons. In case of "obvious clinical diagnosis", the need for an autopsy has not been proven. However, when the clinical diagnosis seems "probable" or when the aetiology has not been found clinically, the post mortem examination of the foetal body is recommended, although certain particular situations, related to the age of the mother, the parity, the interest shown by the couple about the result, to ethnic or religious factors, may lead to the request of only a limited examination, which is much less expensive.

Autopsy↗
PubMedDate not supplied

[Lethal syndromes with thin bones].

The authors report six cases from six different families of lethal brittle bone disease with narrow diaphyses and thin ribs. This phenotype should be dissociated from the lethal forms of osteogenesis imperfecta and encompass two diseases. In the first, autosomal recessive, the metaphyses of long bones are narrow, with a membranous ossification, without cartilagenous residue. Cultured fibroblasts demonstrate a marked increase in type V collagen. In the second type, the metaphyses are enlarged and the babies have a facial dysmorphism with hypoplasia of the eyebrows, frontal bossing and a small mouth.

Bone Diseases, Developmental↗