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Biomedical subjects

P Beighton

Publications and source records attributed to P Beighton.

At least 127 records · Page 7Linked to original sources
PubMed1987

Osteogenesis imperfecta type III: an ancient mutation in Africa?

In a survey of institutions for crippled persons in Zimbabwe, 58 patients with osteogenesis imperfecta (OI) were identified; 42 had the rare OI Type III. The Shona and Ndebele people, who comprise the major tribal groups in Zimbabwe, both had a similar and relatively high gene frequency for this disorder. Both tribes were derived from common progenitors, but until 150 years ago had been geographically separated for 2 millenia. Subsequently, they have remained culturally and socially distinct. The implications are that the mutation for OI III in Africa occurred at least 2,000 years ago.

Female↗
PubMed1987

The Proteus syndrome: the magnetic resonance and radiological features.

The Proteus syndrome is a recently delineated group of skeletal and mesodermal malformations. Its characteristics include hemihypertrophy and fatty/lymphangiomatous masses. This description outlines the imaging sequences available to the radiologist. It is mainly concerned with the use of magnetic resonance imaging. This shows the extent of the mesodermal malformation with particular reference to the extent of intra abdominal infiltration.

Child, Preschool↗
PubMed1987

Heterozygous manifestations of Langer mesomelic dysplasia.

The mesomelic dysplasias are a heterogeneous group of genetic disorders with predominant skeletal manifestations in the forearms and shanks. We have documented, over a thirteen-year period, the clinical and radiographic course of the condition in a boy with the Langer type of mesomelic dysplasia. It has been suggested that dyschondrosteosis or the Madelung deformity are the phenotypic manifestations of the gene which causes Langer mesomelic dysplasia in the homozygote. Several relatives on both sides of the family which we studied had malformations of their forearms, in keeping with this concept. However, these anomalies differed from those of dyschondrosteosis and the classical Madelung deformity; the exact syndromic status of the heterozygous phenotype remains unsettled.

Adolescent↗
PubMed1987

Heterogeneity of pseudoxanthoma elasticum: delineation of a new form?

Sixty-four patients with pseudoxanthoma elasticum (PXE) were investigated in a nationwide study within South Africa and Zimbabwe. Thirty-nine individuals formed a distinct clinical subgroup. These persons were found exclusively among people of Afrikaner descent, whose origins are mainly derived from Dutch and French-Huguenot stock. This disorder was inherited as an autosomal recessive trait and presented mild to moderate cutaneous and cardiovascular manifestations. However, after the third decade of life severe visual impairment developed and culminated in blindness in 8 people by the age of 50. The cause of the visual defect was progressive extension of angioid streaks into the macula with neovascularization and haemorrhage. Laser therapy may have prevented further bleeding in 4 instances. The severity of ocular involvement contrasted with the mildness of the skin changes, and in this respect the condition seems to differ from previously delineated autosomal recessive forms of PXE.

Adolescent↗
PubMed1987

Ehlers-Danlos syndrome: yet another type?

A mother and her four children had gross generalized joint laxity, with multiple dislocations and subluxations, moderate skin hyperextensibility and mild connective tissue fragility. Their condition could be categorized in the Ehlers-Danlos syndrome Type III or the familial undifferentiated hypermobility group of disorders, but differed from these conditions by virtue of the severity of articular complications and the presence of wormian bones in the skulls. We consider that these patients have an undelineated connective tissue disorder; attempts at characterization at the molecular level are underway.

Adult↗
PubMed1987

The obstetric and gynaecological implications of pseudoxanthoma elasticum.

The obstetric aspects of 54 pregnancies in 20 women with pseudoxanthoma elasticum (PXE) have been reviewed. Forty live births were delivered vaginally, three of them were preterm. Twelve pregnancies miscarried at between 6 and 14 weeks gestation and two were terminated in the 8th week for psychiatric reasons. Fetal losses in two instances were attributed to cervical incompetence. One baby died at 4 days of age from a complex congenital cardiac anomaly. No abnormal maternal genital or gastrointestinal bleeding was recorded. Hypertension complicated seven pregnancies. Abdominal striae developed in all patients, the severity of which correlated with weight gain and the number of pregnancies. All the women had normal gynaecological histories, none had excessive menstrual bleeding or increased episodes of menorrhagia. The eye, blood vessels and other organ systems involved in PXE were unaffected by pregnancy. Apart from the increased risk of first trimester miscarriage and the cosmetic deterioration of the abdominal skin, there are few serious complications in pregnancy in patients with PXE.

Abortion, Spontaneous↗
PubMed1987

Namaqualand hip dysplasia. Orthopedic implications.

Namaqualand hip dysplasia (NHD) is an inherited skeletal disorder that has been identified in 45 persons in five generations of a large family in South Africa. Involvement of the femoral capital epiphyses, which was present in all cases, led to significant orthopedic complications. Hip pain developed between three and 20 years of age and heralded the onset and gradual progression of premature degenerative arthropathy. The patients who were examined were all over 35 years of age; four had been treated by total hip arthroplasty. For appropriate and effective management of this uncommon but well-defined syndromic entity, an early and specific diagnosis is essential.

Adolescent↗
PubMed1986

Oceanic islands--a unique opportunity for medical research.

Island populations have a great deal to offer the medical geneticist, ranging from the curiosity value of their individual diseases to the elucidation of the genetic contribution to aetiologies of specific disorders and the understanding of the complexity of morbidity patterns. In the light of our own experiences, upon which this article is based, we recommend oceanic islands to colleagues as a source of fruitful and rewarding research.

Atlantic Islands↗
PubMed1986

A microcomputer-based relational database for an academic department of human genetics.

Recent advances in microcomputer technology have made it possible for academic departments to establish their own discrete databases. This is in keeping with the modern tendency towards distributed processing on smaller systems as opposed to depending on large shared remote centralized mainframes. A database that had been implemented on a mainframe for the Department of Human Genetics of the University of Cape Town has been successfully transferred to a microcomputer system, resulting in a redesigned relational system with several significant advantages. These include faster data capture, enhanced consistency, greater computer awareness, improved economy and increased confidentiality.

Computers↗
PubMed1986

Inherited disorders in the black population of southern Africa. Part I. Historical and demographic background; genetic haematological conditions.

Genetic, geographic and socio-economic diversity has resulted in disparity in the relative prevalence of many inherited disorders and congenital conditions in the populations of southern Africa. In the first section of a 3-part article an account is given of the historical and demographic background in relation to factors which influence the presence and frequency of faulty genes in the black community. In addition, inherited haematological conditions--in particular haemoglobinopathies, red-cell enzyme and membrane defects--are discussed in terms of their clinical, genetic and anthropological significance. The conditions transmitted by simple genetic mechanisms are documented in Part II, with discussion of those notable for their unusually high or low prevalence. In the final section multifactorial, chromosomal and non-genetic congenital disorders are reviewed and a number of unusual conditions of obscure aetiology are mentioned. In this 3-part overview an attempt has been made to document present knowledge and to provide a bibliography for inherited and congenital disorders in the black population.

Anemia, Sickle Cell↗
PubMed1986

Macromelanosomes in the early diagnosis of neurofibromatosis.

Skin biopsies of café-au-lait macules from 34 patients with a clinical diagnosis of classical neurofibromatosis were examined histologically and ultrastructurally to determine the presence or absence of macromelanosomes in the epidermal melanocytes and keratinocytes. Sixteen of the 34 patients had macromelanosomes. The presence of macromelanosomes varied with age and ethnic background; they were detected in nine of 12 Whites, six of 10 persons of mixed ancestry, and one of two Blacks. In these populations skin biopsy is useful in early diagnosis of neurofibromatosis. However, none of 10 persons of Indian stock had macromelanosomes. Their total absence in this group may be indicative of genetic heterogeneity.

Child↗
PubMed1986

St. Helena familial genu valgum.

A kindred on the mid-Atlantic island of St. Helena has severe "knock knees" and variable lesser malalignment at the elbows and wrists. The disorder is the consequence of hypoplasia of the corresponding bony condyles, with subsequent progressive degenerative osteoarthrophy. Inheritance is autosomal dominant and the condition seems to be a private syndrome which has arisen on the island by recent mutation. In view of the geographical localisation of the disorder and the anatomical distribution of the abnormalities, we propose the title "St. Helena Familial Genu Valgum".

Abnormalities, Multiple↗
PubMed1986

Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.

We have analysed six South African families with osteogenesis imperfecta type I using three DNA polymorphisms associated with the pro alpha 2(I) collagen gene. In four of these families linkage of the pro alpha 2(I) gene and the osteogenesis imperfecta phenotype was suggested, whereas in the remaining two families there was a lack of linkage. No distinct correlation could be made between the phenotypic features of the families studied and linkage or lack of linkage to the pro alpha 2(I) gene. Two different haplotypes were found to be associated with the mutant pro alpha 2(I) alleles. These findings suggest that molecular heterogeneity exists within osteogenesis imperfecta type I and that in a significant proportion of cases the defect is linked to the pro alpha 2(I) gene.

DNA↗