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Biomedical subjects

P Beighton

Publications and source records attributed to P Beighton.

297 records · Page 17Linked to original sources
PubMed1968

X-linked recessive inheritance in the Ehlers-Danlos syndrome.

Two families are described in which the Ehlers-Danlos syndrome is apparently transmitted as an X-linked recessive character. The results of tests for the Xg blood groups and for colour vision show that the locus for the Ehlers-Danlos syndrome is not close to that for the Xg groups nor very close to the locus for deutan colour-blindness.The clinical features of this variety of the Ehlers-Danlos syndrome include considerable hyperextensibility of the skin and a bruising tendency.

Blood Group Antigens↗
PubMedDate not supplied

Serogenetic studies on the inhabitants of Tristan da Cunha.

The inhabitants of Tristan da Cunha, a remote island in the South Atlantic, number about 300 and are direct descendants of a small number of individuals who settled there in the first half of the nineteenth century. Some serogenetic studies were carried out on the islanders when they were evacuated to England in 1961 but 160 individuals have now been tested for a much wider range of gene markers. No variation was found at 15 loci while considerable variation was encountered at 12 loci. In particular, the high frequency of A1 and the complete absence of A2 in the ABO system was confirmed; the high frequency of Ro (cDe) in the Rhesus system and GdA, an allele at the G6PD locus, as well as the presence of three haplotypes in the Gm system (Gm1,5,6,14,17, Gm1,5,6,17 and Gm1,5,13,14,17) confirm the known historical origin of the women founders who came from St Helena. Although the degree of inbreeding is high there is no significant deficiency of heterozygotes in the eight informative systems.

Adolescent↗
PubMedDate not supplied

The orthopedic aspects of Gaucher disease.

Orthopedic problems are an important feature of the adult, chronic or non-neuropathic form of Gaucher disease. Thirty-five South African patients have been investigated and of these 29 had significant skeletal complications. Twenty-one had nonspecific bone pains, 14 had episodes of pseudoosteomyelitis and 2 had acute hematogenous osteomyelitis. Twenty experienced collapse of femoral heads and in 9, prosthetic joint replacement had been successfully undertaken. Four had kyphoscoliosis due to wedging of vertebral bodies and three had pathological fractures of tubular bones. Twenty-eight of the patients were of Askhenazi Jewish stock and the minimum prevalence of the disorder in this group in South Africa is one in 4,300. If skeletal problems and splenomegally coexist in a Jewish patient, the diagnosis of Gaucher disease warrants serious consideration.

Adolescent↗