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The Journal of Bone & Joint Surgery British Volume
Vol. 88-B, Issue 1 | Pages 139 - 139
1 Jan 2006
Beighton P


The Journal of Bone & Joint Surgery British Volume
Vol. 84-B, Issue 6 | Pages 933 - 933
1 Aug 2002
Beighton P


The Journal of Bone & Joint Surgery British Volume
Vol. 67-B, Issue 4 | Pages 602 - 604
1 Aug 1985
Versfeld G Beighton P Katz K Solomon A

Study of 16 patients with Type III osteogenesis imperfecta showed marked elongation of the pedicles of the vertebrae in all cases, a deformity which was not seen in other types of the disease. Posterior rib angulation was also noted in Type III disease. These features have proved useful in suggesting the diagnosis of osteogenesis imperfecta even before long bones have fractured and in categorizing patients with osteogenesis imperfecta into the correct type for prognostic purposes.


The Journal of Bone & Joint Surgery British Volume
Vol. 65-B, Issue 3 | Pages 350 - 354
1 May 1983
Connor J Horan F Beighton P

The clinical features of nine new patients with dysplasia epiphysialis hemimelica are reported, with a long-term follow-up on a further seven patients who were described in the earliest case reports of this disease. Each of these 16 patients had only one leg involved, but 12 had multiple epiphyses affected. The distal femur, distal tibia and talus were the commonest sites and most patients presented with painless swelling or deformity. Wasting of the muscles of the affected leg was a common finding, and was occasionally disproportionate to the degree of disuse. One patient had the unique combination of involvement of the lateral and medial halves of different epiphyses in the same limb and another had unusual metaphysial changes. Diagnosis was often delayed despite typical radiographic appearances. There was no evidence for a genetic component in the aetiology nor was any common environmental factor identified. Treatment by local excision was generally effective for lesions in the vicinity of the knee, but some patients with involvement of the talus required arthrodesis around the ankle. The long-term prognosis appears to be good and so far only two of these patients have developed premature osteoarthritis.


The Journal of Bone & Joint Surgery British Volume
Vol. 63-B, Issue 4 | Pages 569 - 571
1 Nov 1981
Jaffer Z Nelson M Beighton P

Clinical examinations and radiographic skeletal surveys have been carried out in 15 patients with foetal alcohol syndrome. Fusion of the capitate and hamate bones in the carpus was bilateral in one patient and unilateral in two. All three had accessory ossification centres at the proximal ends of both second metacarpals. Two of these patients also had radio-ulnar synostosis. Digital shortening, which was demonstrated by pattern profile analysis, was very variable in degree and anatomical distribution. Other skeletal changes of uncertain significance were a "beaten copper" appearance of the calvarium in four patients, and coxa valga in one other. Diagnosis of the foetal alcohol syndrome warrants consideration in any individual presenting with carpal fusion or with radio-ulnar synostosis.


The Journal of Bone & Joint Surgery British Volume
Vol. 63-B, Issue 3 | Pages 328 - 329
1 Aug 1981
Beighton P Bathfield C

A thoracolumbar gibbus is an uncommon but potentially dangerous feature of achondroplasia. In a series of unselected South African Negro achondroplasts, nine out of 17 had an abnormality of this type. In contrast, only one girl out of 20 affected individuals of European or mixed ancestry had a gibbus. It is likely that the high frequency of this deformity in South African Negro achondroplasts is the result of the traditional practice by which an infant is carried on the mother's back, with the legs straddling her waist and the spine in flexion. Wedging on the vulnerable vertebral bodies in the Negro achondroplastic infant can probably be prevented by avoiding this custom.


The Journal of Bone & Joint Surgery British Volume
Vol. 62-B, Issue 2 | Pages 243 - 247
1 May 1980
Horan F Beighton P

The Fairbank Collection in the Radiology Department of the Royal National Orthopaedic Hospital contains details of 15 patients in the section labelled "Metaphysial Dysplasia and Dysostosis". This material has been reviewed, long-term follow-up of the patients carried out and the diagnosis revised, where indicated, according to current concepts. Of the 15 patients, all children, seven had recognisable bone dysplasias. The remaining eight, all listed under the heading "metaphysial fragility", had the characteristic radiographic features of "battered" babies.


The Journal of Bone & Joint Surgery British Volume
Vol. 58-B, Issue 4 | Pages 492 - 495
1 Nov 1976
Davidson J Beighton P

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.


The Journal of Bone & Joint Surgery British Volume
Vol. 58-B, Issue 3 | Pages 343 - 346
1 Aug 1976
Horan F Beighton P

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.


The Journal of Bone & Joint Surgery British Volume
Vol. 55-B, Issue 3 | Pages 478 - 481
1 Aug 1973
Beighton P Craig J

1. The case is described of an eight-year-old girl with the Morquio syndrome (mucopolysaccharidosis type IV) who died from acute tetraplegia, due to atlanto-axial subluxation which occurred during general anaesthesia.

2. Hypoplasia of the dens of the axis vertebra entails a high risk of vertebral dislocation and spinal cord damage especially in circumstances such as general anaesthesia when excessive movements of the head may occur.


The Journal of Bone & Joint Surgery British Volume
Vol. 54-B, Issue 3 | Pages 509 - 515
1 Aug 1972
Sallis JG Beighton P

1. A large Caucasian kindred in South Africa are affected by a previously undescribed inherited deformity of the hands and feet called digito-talar dysmorphism.

2. The principal features of digito-talar dysmorphism are flexion deformities, narrowing and ulnar deviation of the fingers. The thumb may be held in an abnormal position by a soft-tissue web. Rocker-bottom foot may develop, due to vertical talus. The facies is normal and the mentality is unimpaired.

3. The general health is good but orthopaedic measures may be needed for function and cosmesis.

4. The condition is transmitted as an autosomal dominant trait, with varying clinical expression of the abnormal gene.


The Journal of Bone & Joint Surgery British Volume
Vol. 51-B, Issue 3 | Pages 444 - 453
1 Aug 1969
Beighton P Horan F

1. The orthopaedic features of 100 patients with the Ehlers-Danlos syndrome are described.

2. The significance of these findings is discussed and comment is made of their relationship to the other stigmata of the syndrome.