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Biomedical subjects

R M Winter

Publications and source records attributed to R M Winter.

At least 217 records · Page 12Linked to original sources
PubMed1982

Lethal, neonatal, short-limbed platyspondylic dwarfism. A further variant?

A stillborn short-limbed platyspondylic dwarf is described. Detailed analysis of the X-ray and histological characteristics of bone and cartilage suggest that this infant represents a previously unreported variant of short-limbed platyspondylic dwarfism. The designation "Luton variant" is suggested.

Cartilage↗
PubMed1981

Intrafamilial correlation in Friedreich's ataxia.

The distribution of age of onset and age of losing the ability to walk independently in patients with Friedreich's ataxia from 93 sibships are presented. Intrafamilial correlation was investigated using three methods: the Pearson product-moment correlation coefficient and to estimates of correlation based on analysis of variance, one a maximum likelihood method and the other using a weighted mean family size. All three resulted in correlation coefficients (r) of around 0.5 for both disease parameters. The latter two methods yielded similar values just greater than 0.5 and it is considered that these are more reliable estimates of intraclass correlation as there were a variable number of family members in the sibships studied. Although the examination of intraclass correlation in Friedreich's ataxia was not highly suggestive of genetic heterogeneity, the observed proportion of first cousin marriages amongst the parents of the sibships studied was about twice the expected proportion. Overall, the data would be compatible with genetic heterogeneity if one genotype is more prevalent than others. An alternative hypothesis is that there are different modifying genes operating within different families in which Friedreich's ataxia occurs.

Adolescent↗
PubMed1980

A diagnostic survey of infants referred for chromosome analysis in the neonatal period.

Examination and assessment of 140 liveborn and stillborn infants referred within two weeks of birth for chromosome analysis showed that 48 had Down's syndrome, 12 other chromosome abnormalities, 17 single gene disorders, 18 recognisable anomalads, 8 recognisable syndromes of unknown aetiology, and the remainder were undiagnosed. Of the non-Down's cases that were diagnosed, 21% had a chromosomal abnormality. These results suggest that a request for chromosome analysis in the newborn period should be viewed as one step in syndrome identification.

Chromosome Aberrations↗
PubMed1980

The estimation of phenotype distributions from pedigree data.

A method is described to estimate from pedigree data that probability density function of a quantitative phenotype, given a specific genotype. Theoretically, pedigrees of any size or complexity that are segregating for conditions of known Mendelian inheritance can be used. Under certain circumstances, the estimates are unbiased by the method of ascertainment.

Genetic Counseling↗
PubMed1980

The calculation of genetic risks in X-linked recessive conditions using programmable calculators.

A scheme is proposed for the analysis of X-linked recessive pedigrees using programmable calculators. The analysis of such pedigrees is reduced to two easily programmable operations that can be used by the counsellor in a step-wise fashion, entering the pedigree information sequentially. It is envisaged that programmable calculators could be a useful tool in general and specialised genetic counselling clinics.

Computers↗
PubMed1980

Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case.

A further patient with a presumed primary deficiency of sialidase N-acetylneuraminic acid hydrolase EC 3.2.1.18) is described. Clinically the patient falls into the sialidosis type 2 category of the recent classification of Lowden & O'Brien (1979), i.e. he manifests coarse facies, mental retardation and skeletal changes of dysostosis multiplex as well as myoclonus and a cherry-red spot at the macula. Sialidase activity in fibroblasts was 4% of control values using a methylumbelliferone substrate. The father of the patient was found to have 50% activity. Abnormal amounts of sialyloligosaccharides were found in the urine. The electrophoretic mobility of known glycosylated enzymes and proteins was found to be altered (more anodal than usual), but could be corrected by incubation of the cell extracts with bacterial neuraminidase. The relationship of the present patient to the Lowden & O'Brien classification is discussed.

Abnormalities, Multiple↗
PubMed1980

Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases.

Cranial sclerosis with osteopathia striata was diagnosed in four members of a family in three generations. The expression of the gene varied from mild cranial enlargement to cranial abnormality associated with severe Pierre-Robin triad. The disorder was diagnosed prenatally in the most severely affected member of the family from the finding of an increased biparietal diameter of the fetal head on ultrasound examination.

Adult↗
PubMed1980

Covesdem syndrome.

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Abnormalities, Multiple↗