Peter Beighton

Biography

• Born June 28, 1934 in Bolton England
• 1957 – Graduated medicine St Mary’s Hospital Medical School, University of London; MB BS, MRCS, LRCP
• 1957-1960 Medical internships in London, UK
• 1960-1962 Captain in the R.A.M.C., Parachute Regiment, UK, United Nations, Congo  
• 1963-1965 WHO International Medical Expedition to Easter Island, South Pacific 
• 1965-1968 Residency in Internal Medicine, St. Thomas’s Hospital, London 
• 1967 – Fulbright Research Fellowship, University of Maryland
• 1968-1969  Research Fellow in Medical Genetics, Johns Hopkins Hospital 
• 1970 – Married Greta Janet Winch
• 1972-1979  First Professor of Human Genetics, University of Cape Town 
• 1979 – Oppenheimer Fellowship, University of Cambridge
• 1982-1998  Director of the MRC Unit for Medical Genetics, University of Cape Town 
• 1994 – Fellowship of the University of Cape Town 
• 2002 – Order of Mapungubwe, bronze; awarded for outstanding achievements in medical genetics.
• 2007 – Professor Extraordinarius, Faculty of Dentistry, University of the Western Cape 
• 2011 – Senior Scholar, University of Cape Town 
• Awards: British Orthopaedic Association, Robert Jones Gold Medal (1975); Smith and Nephew Literary Award (1977, 1979, 1986); South Africa Orthopaedic Association, President’s Medallion (1978); South African Medical Research Council, Silver Medal (1997); Ehlers-Danlos Foundation, USA International research award (1999)

Medical Eponyms

Beighton Score (1971)

The Beighton Score is a simple, numerical index which is used to express the range and severity of joint movements in normal and affected persons.

1967-1968 Peter Beighton undertook a survey of 100 persons and families with the Ehlers-Danlos Syndrome at St Thomas’ Hospital, London. Affected families were seen in their homes throughout southern England and PB was accompanied and assisted on this Doctoral project by a nursing sister, Greta Winch. The patients’ join movements were assessed using the method and the 5-point scale proposed by Carter and Wilkinson, 1964.

1970 – Peter and Greta Beighton (now married) travelled to South Africa to undertake an epidemiological investigation of bone and joint disorders, based at the University of the Witwatersrand. An initial recognisance was undertaken in a semi-nomadic Bushmen community in the Kalahari Desert. Project plans were discussed while sitting around the camp fire. Greta had a flash of insight and suggested that although the limbs and digital joins were paired, they were not necessarily symmetrical and that a 9-point score would be appropriate.

1971 – Greta’s 9-point score was successfully used in a formal epidemiological survey of 1081 persons in a Tswana community in the Transvaal, South Africa. Details of the project were presented by Peter Beighton at a meeting of the Herberden Society in London in Nov 1972. The results were published under the names Beighton, Solomon and Soskolne in 1973

• Fig 1: Hyperextension of the fifth finger [In this particular illustration, the extension angle does not reach the required 90^o
• Fig. 2 Apposition of the thumb to the ventral aspect of the forearm
• Fig 3. Hyperextension of the elbow joint beyond 10^o
• Fig 4. Hyperextension of the knee joint beyond 10^o
• Fig 5. Placing the palms of the hands flat on the floor while maintaining the knees in full extension

The method of assessing joint mobility by means of a score based upon the range of movements of certain joints has proved its value in previous investigations. Although the great majority of normal adults score values of 0, 1, or 2 on the mobility scale, individuals with inherited hypermobility syndromes achieve scores at the top end of the scale (Beighton and Horan, 1969). It is therefore reasonable to conclude that the scale is valid for the measurement of joint mobility.

The results which were obtained demonstrate that the range of movements decreases with age, falling rapidly during childhood, and more slowly throughout adult life. However, at any age, females are consistently more hypermobile than males.

Beighton et al 1973

Selected Key medical contributions [from OMIM]

Spondyloepimetaphyseal dysplasia with joint laxity, Type 1 (Beighton type; SEMDJL1): characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. [Beighton et al 1980, 1984]

Beukes familial hip dysplasia (BFHD): Cilliers and Beighton in 1990 identified a ‘new’ inherited skeletal disorder in 47 patients in 6 generations of an Afrikaner family in South Africa. Hip joint discomfort usually developed during childhood at age less than 2 years, but might develop either later in childhood or, as in one instance, as late as the age of 35 years. They traced the family back to a single Dutch immigrant to South Africa who arrived in 1685. Since only members of the Beukes family were identified as suffering from the condition, they proposed the designation ‘Beukes familial hip dysplasia (BFHD)’

Schwartz-Jampel syndrome: Viljoen and Beighton in 1992 gave an extensive description of SJS and pointed out that malignant hyperthermia is a potentially lethal complication during anaesthesia.

Osteoglophonic dwarfism: Beighton et al in 1980 described a seemingly ‘new’ form of dwarfism in a 10-year-old South African girl of mixed ancestry. The designation ‘osteoglophonic,’ which connotes ‘hollowed out,’ was based on the radiographic appearance of the metaphyses. The parents were nonconsanguineous and the father was 39 years old at her birth, supporting dominant inheritance. Beighton reviewed the world cases in 1989

Major Publications

Books

• Beighton P. The Ehlers-Danlos Syndrome. 1970
• Beighton P. Inherited Disorders of the Skeleton. 1978 [2e 1988]
• Cremin B, Beighton P. Bone Dysplasias of Infancy. 1978
• Beighton P, Cremin B. Sclerosing Bone Dysplasias. 1980
• Horan F, Beighton P. Orthopaedic Problems in Inherited Skeletal Disorders. 1982
• Beighton P, Sellars S. Genetics and Otology. 1982
• Beighton P, Grahame R, Bird H. Hypermobility of joints. 1983 [2e 1989, 3e 1999, 4e 2012]
• Kozlowski K, Beighton P. Gamut Index of Skeletal Dysplasias. 1984 [2e 1995, 3e 2001]
• Beighton P, Beighton G. The Man Behind the Syndrome. 1986
• Beighton P. McKusick’s heritable disorders of connective tissue 5e. 1993
• Bartsocas CS, Beighton P. Dysmorphology and Genetics of Cardiovascular Disorders. 1994
• Beighton P, Beighton G. The Person Behind the Syndrome. 1997
• Bartsocas CS, Beighton P. Genetic Counseling in the Dawn of the 21st Century. 1998
• Beighton P. Blackpool Division, St John Ambulance Brigade; The Early Years. 1998

Publications

• Beighton P, Horan F. Orthopaedic aspects of the Ehlers-Danlos syndrome. J Bone Joint Surg Br. 1969; 51(3): 444-453
• Beighton PH, Horan FT. Dominant inheritance in familial generalised articular hypermobility. J Bone Joint Surg Br. 1970; 52(1): 145-147.
• Horan FT, Beighton PH. Recessive inheritance of generalized joint hypermobility. Rheumatol Rehabil. 1973; 12(1): 47-49. [Beighton score]
• Beighton P, Solomon L, Soskolne CL. Articular mobility in an African population. Ann Rheum Dis. 1973; 32(5): 413-418.
• Beighton P, Kozlowski K. Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. Skeletal Radiol. 1980; 5(4): 205-212 [SEMDJL1 (Beighton-type)]
• Beighton P, Cremin BJ, Kozlowski K. Osteoglophonic dwarfism. Pediatr Radiol. 1980; 10(1): 46-50 [OGD]
• Sellars S, Beighton P. Autosomal dominant inheritance of conductive deafness due to stapedial anomalies, external ear malformations and congenital facial palsy. Clin Genet. 1983; 23(5): 376-379
• Beighton P, Gericke G, Kozlowski K, Grobler L. The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity. Clin Genet. 1984 Oct;26(4):308-317.
• Beighton P. Osteoglophonic dysplasia. J Med Genet. 1989; 26(9): 572-576. [OGD]
• Cilliers HJ, Beighton P. Beukes familial hip dysplasia: an autosomal dominant entity. Am J Med Genet. 1990; 36(4): 386-390. [BFHD]
• Viljoen D, Beighton P. Schwartz-Jampel syndrome (chondrodystrophic myotonia). J Med Genet. 1992 Jan;29(1):58-62 [SJS]
• Beighton P. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). J Med Genet. 1994 Feb;31(2):136-140. [SEMDJL1]
• Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998; 77(1): 31-37.
• Beighton P, Fieggen K, Wonkam A, Ramesar R, Greenberg J. UCT’s contribution to medical genetics in Africa – from the past into the future. S Afr Med J. 2012;102(6):446-8
• Vorster AA, Beighton P, Ramesar RS. Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families. Clin Genet. 2015 May;87(5):492-5.

References

Biography

• Bibliography. Beighton, Peter. WorldCat Identities

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