Biomedical subjects

P Beighton

Publications and source records attributed to P Beighton.

At least 235 records · Page 13Linked to original sources

PubMed1978

Autosomal recessive inheritance of metaphyseal dysplasia (Pyle disease).

Two young adults with Pyle disease have been investigated in a large Afrikaner kindred in South Africa. Consanguinity was present in the family, and it is likely that the condition was inherited as an autosomal recessive. This contention is supported by the radiographic demonstration of minor degrees of widening of the distal femora in obligatory and potentially heterozygous relatives. Apart from genu valgus of moderate degree, the patients enjoyed good health and their gross radiographic skeletal abnormalities contrasted with the innocuous clinical presentation. Differentiation of Pyle disease from the autosomal dominant and autosomal recessive forms of cranio-metaphyseal dysplasia is of prognostic importance in view of the potentially serious complications in these latter disorders.

Adult↗

PubMed1977

Huntington's chorea in the Cape coloured community of South Africa.

Huntington's chorea is a grave genetic neurological disorder which appears to be a more serious problem in South Africa than has generally been recognized. The minimum prevalence of the disease in the Cape Coloured is 3,5/100 000 of the population. Sixteen per cent of patients were younger than 20 years at the time of onset of the disease. This is among the highest incidence of juvenile Huntington's chorea in the world. The gene for Huntington's chorea has been in South Africa for 300 years. It was first introduced into this country from Holland in the middle of the 17th century and then later from England in the middle and end of the 19th century. The number of affected individuals appears to be on the increase in South Africa. Unfortunately, at present, no methods are available for effective control of this disorder.

Adolescent↗

PubMed1977

Impaired prolactin release in Huntington's chorea. Evidence for dopaminergic excess.

Eight individuals with Huntington's chorea had low basal and impaired human prolactin responses to both chlorpromazine and thyrotrophin-releasing hormone. These findings are compatible with enhanced hypothalamic dopaminergic activity in this disease. Two juvenile rigid patients with Huntington's chorea had excessive prolactin responses to chlorpromazine. Approximately half of the twenty-three potentially affected first-degree relatives of patients with Huntington's chorea had normal prolactin responses to chlorpromazine. However, twelve had significantly abnormal responses-seven in one direction, and five in the other. The predictive value of these findings in terms of presymptomatic diagnosis will be revealed by a longitudinal study. A biochemical method for the early recognition of the condition would have profound implications for genetic counselling.

Adolescent↗

PubMed1977

Rheumatic disorders in the South African Negro. Part IV. Gout and hyperuricaemia.

The prevalence of gout and the frequency distribution of serum uric acid (SUA) concentrations have been studied in four South African populations. Approximately 450 respondents over the age of 15 years were investigated in each of the following: a tribal Xhosa community in Transkei; a rural Tswana community in the northwestern Transvaal; an urban Negro population in Johannesburg; and a Caucasian community in the same city. No case of gout was encountered in any of the Negro groups, while the prevalence among the urban Caucasians was 13/1 000 men and 3/1 000 women. The mean SUA concentrations showed two consistent trends: (i) the levels rose with age in all four populations and in both sexes; (ii) they were generally higher in men than in women throughout the age range. There was, moreover, an increase in SUA concentrations with increasing sophistication of lifestyle (P less than 0,01), the lowest levels occurring in the tribal Africans, and the highest in the urban communities. This latter finding could not be explained on a genetic basis, nor were there significant differences in physical configuration and nutritional status among the three Negro groups. It is suggested that hyperuricaemia, and possibly the clinical manifestations of gout, have a polygenic aetiology in which acculturation plays an important contributory role.

Adolescent↗

PubMed1977

Sclerosteosis - an autosomal recessive disorder.

Sclerosteosis is a rare, potentially lethal skeletal disorder in which massive bony over-growth leads to facial distortion, cranial nerve compression and progressive rise in intracranial pressure. Gigantism and syndactyly of the 2nd and 3rd fingers are associated features. In a nationwide investigation in South Africa, 25 affected individuals in 15 Afrikaner kindreds have been studied. The minimum prevalence of the contition in this community is 1 in 75,000. Analysis of pedigree data confirms that sclerosteosis is an autosomal recessive condition. The gene frequency in the Afrikaner people is estimated at 0.0035, with 10,000 clinically normal heterozygotes in this population. Heterozygote detection may be possible on a basis of recognition of minor changes which are apparent on skull radiographs.

Abnormalities, Multiple↗

PubMed1977

Rheumatoid arthritis in a tribal Xhosa population in the Transkei, Southern Africa.

An epidemiological survey of rheumatoid arthritis (RA) was undertaken in a tribal Xhosa community in the Transkei of Southern Africa. 577 respondents aged 18 and over were examined clinically and of these, 549 were investigated radiologically and 482 serologically. The presence of RA was then assessed by means of a modification of the Rome criteria, as used in previous comparable surveys. The prevalence of 'definite' RA in the adults aged 18 and over in this population was 0-68% and of 'probable' RA, 1-6%. The combined 'definite' and 'probable' prevalence was 2-2%. The relatively low prevalence of RA in this population is consistent with the results of other surveys in unsophisticated African Negro populations in West Africa and South Africa, and contrasts with the higher prevalence encountered in an urbanized South African Negro community and in populations in Europe and the USA.

Adolescent↗

PubMed1977

A review of the osteopetroses.

The osteopetroses are a group of conditions which are characterized by varying combinations of bony sclerosis and modelling defects. Classical osteopetrosis may be inherited as an autosomal dominant or autosomal recessive: the former variety is benign, heterogeneous and comparatively common, while the latter is precocious, potentially lethal and rare. Many other craniotubular dysplasias and hyperostoses are loosely grouped with the osteopetroses. The commonest of these is the autosomal dominant form of craniometaphyseal dysplasia, while the others which are well known include Pyle disease, and van Buchem disease. Sclerosteosis is a progressive condition in which massive cranial thickening is associated with syndactyly and gigantism. Each of these disorders has specific clinical and radiographic features, which permit recognition. Diagnostic accuracy is crucial for treatment, prognostication and effective genetic management.

Chromosome Aberrations↗

PubMed1977

Pseudoachondroplasia, a report of 13 cases.

Pseudoachondroplasia is a heterogeneous inherited skeletal dysplasia in which dwarfism is a major feature. Affected individuals have a normal craniofacial appearance and the skeletal malformations do not become apparent until early childhood. Radiographic changes observed in 13 affected individuals include shortening of tubular bones, flaring of metaphyses, variable epiphyseal maldevelopment and some degree of vertebral end-plate malformation. Diagnostic precision is essential for effective management and genetic counselling.

Achondroplasia↗

PubMed1977

Cardiovascular abnormalities in cutis laxa.

Cutis laxa is manifest histologically by fragmentation of elastic tissue throughout the body. The aorta and other systemic vessels show dilatation, elongation and even aneurysm formation. We report multiple pulmonary artery branch stenoses in a child who had cutis laxa. Pulmonary artery stenoses may be the cause of the pulmonary hypertension and right heart failure observed in patients with this condition.

Cardiovascular Diseases↗

PubMed1976

Aetiology of deafness in white children in the Cape.

Two-hundred and forty White children attending special schools for the deaf have been investigated by clinical,genetic and laboratory methods in order to determine determine the aetiology of their hearing disability of these, 36% had a genetic basis for their deafness, while in a further 34% an acquired lesion was incriminated. The most important determinants of acquired deafness were maternal rubella, neonatal hyperbilirubinaemia and meningo-encephalitis. The prevention of childhood deafness is primarily dependent upon recognition of the underlying causative factor.

Adolescent↗

PubMed1976

Genetic disorders in Southern Africa.

Certain uncommon genetic disorders occur relatively frequently in the various population groups of Southern Africa. Prominent among these are porphyria, colonic polyposis and sclerosteosis in the Afrikaner community, Huntington's chorea in the British, Gaucher's and Tay-Sachs diseases in the Jewish population, glucose-6-phosphate dehydrogenase deficiency (G-6-PD deficiency) and thalassaemia in the Greek community, various skeletal dysplasias in the Black group, lipoid proteinosis and cleidocranial dysostosis in the Cape Coloured population, diabetes mellitus in the Indian community and retinitis pigmentosa in the Tristan da Cunha islanders. In addition, 'private' syndromes have been encountered in virtually every group. Awareness of the ethnic distribution of unusual genetic conditions is of considerable practical importance during the differential diagnosis of obscure disease.

Atlantic Islands↗

PubMed1976

Excessive Siamese twinning in Southern Africa.

Twelve sets of conjoined twins have been born in Southern Africa since February 1974. This possibly represents a significant increase in the incidence of Siamese twinning and may be the result of unknown environmental agents. Several of the sets of twins were diagnosed antenatally. In view of the current circumstances a high index of suspicion is probably justified in the presence of maternal hydramnios or fetal malpresentation.

Africa, Southern↗

PubMed1976

Serum uric acid concentrations in a Xhosa community in the Transkei of Southern Africa.

Serum uric acid (SUA) concentrations were measured in specimens obtained from 479 respondents aged 15 and over during an epidemiological survey of bone and joint conditions in a tribal Xhosa community living in the Transkei, Southern Africa. Population SUA levels in the Xhosa were significantly lower than those previously observed in South Africa Negro groups in rural and urban environments. This finding agrees with the observations that population SUA concentrations tend to rise with increasing complexity of life style.

Adolescent↗

PubMed1976

Osteoarthrosis in a rural South African Negro population.

The prevalence and distribution of osteoarthrosis has been studied in a South African Negro population. One or more joints were affected in 60% of the males and 48% of the females, compared with a prevalence of 55% in males and 63% in females in a comparable English population. Multiple osteoarthrosis was significantly less common in the African than in the English population, the difference here being greatest in females. Clinical Heberden's nodes were also very infrequent in the African population. However, the Tswana males had significantly more osteoarthrosis of the metacarpophalangeal and proximal interphalangeal joints than was encountered in English males. This is attributed to the traumatic effect of hard manual work which is carried on into old age among most African populations.

Adult↗

PubMed1976

The radiology of sclerosteosis.

Sclerosteosis is an unusual disorder in which increased skeletal density is associated with abnormalities of bony modelling. The condition is progressive and complications arise due to cranial nerve involvement. Death from raised intracranial pressure occurs in early adulthood. In order to define the range and extent of the bony abnormalities, the radiographic features of 18 affected individuals have been analysed. The recognition of characteristic changes permits diagnostic precision.

Adolescent↗

PubMed1976

Parastremmatic dwarfism.

A girl aged ten, of Cape Coloured stock, with typical features of parastremmatic dwarfism has been investigated. The clinical manifestations included disproportionate dwarfism, limb deformity, a short stiff neck, and marked thoracic kyphosis. The radiographic changes were dramatic, the skeleton having a "flocky" appearance due to patches of radiolucency in an irregular lattice of sclerosis. The metaphyses and epiphyses of the long bones were grossly expanded, and the vertebrae were flattened and distorted. The clinical and radiographic features of five other previously reported individuals with parastremmatic dwarfism were very similar to those of our patient. The differential diagnosis of this condition includes metatrophic dwarfism, diatrophic dwarfism and the spondylo-epiphysial dysplasias. However, the unique "flocky" radiographic appearance of the bones permits diagnostic precision. There is some evidence to indicate that parastremmatic dwarfism might be transmitted as an autosomal dominant, although this is by no means certain. The fact that our patient had seven normal siblings and unaffected parents would be compatible woth autosomal recessive inheritance.

Bone Diseases, Developmental↗

PubMed1976

Whence the arthrogrypotics?

During the course of a nation-wide survey of patients with bone and joint deformities, twenty-six individuals with arthrogryposis multiplex congenita, in the narrow and precise sense of the term, were investigated. No patient was more than twenty-four years of age. However, on a basis of the figures of population, it can be estimated that 21-0 +/- 6-5 older affected individuals should have been encountered. Furthermore, there was a relative excess of younger children. The series was reasonably unbiased, and as arthrogryposis is non-lethal the deficiency of affected adults is an anomalous finding. It is tentatively suggested that arthrogryposis might result from the intra-uterine influence of an unknown environmental agent which has been present in South Africa for only a limited period of time. Detection of this factor could be an important step in the prevention of the disease.

Adolescent↗

PubMed1976

The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals.

Sclerosteosis is a unique autosomal recessive condition in which skeletal overgrowth is associated with syndactyly and digital malformation. Analysis of the course and clinical features in 25 affected individuals showed that the condition is progressive and potentially lethal. Facial palsy and deafness are common complications and raised intracranial pressure may develop. The clinical and radiographic stigmata of sclerosteosis permit differentiation from the other disorders of the "osteopetrosis" or "Albers-Schönberg disease" group, in which bony thickening and cranial nerve palsy occur.

Bone Diseases, Developmental↗