Bone involvement in Gaucher disease.
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Adult↗
Biomedical subjects
P Beighton
Publications and source records attributed to P Beighton.
South African variants of Gaucher disease.
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Adolescent↗
Sclerosing bone dysplasias.
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Bone Diseases, Developmental↗
Intracranial calcification in oculodento-osseous dysplasia.
Oculodento-osseous dysplasia (ODOD) is a rare genetic disorder characterized by microphthalmia, hypoplasia of the dental enamel, dysplastic and sclerotic changes in the skeleton and various digital malformations. The occurrence of basal ganglion calcification in this condition is of considerable interest, particularly as it has some biochemical features in common with hypoparathyroidism and pseudohypoparathyroidism. The 2 patients presented in this article did not show any features of an extrapyramidal disorder, but both experienced progressive spasticity in the limbs. The neurological disturbance was not due to compression of the neuraxis by bony overgrowth, but to an associated neurological lesion of undetermined nature. The biochemical abnormalities are discussed but as yet no explanation for the association between intracranial calcification and ODOD can be offered.
Abnormalities, Multiple↗
Spondylocostal dysostosis in South African sisters.
The clinical and radiographic features of two sisters with a severe form of spondylocostal dysostosis (SCD) are described and depicted Autosomal recessive inheritance is likely.
Adolescent↗
The femoral hypoplasia-unusual facies syndrome: a genetic entity?
Nine patients with bilateral femoral hypoplasia have been investigated in an attempt to elucidate the syndromic identity and pathogenesis of the femoral hypoplasia-unusual facies syndrome (FH-UFS). We believe that the FH-UFS represents the end of the spectrum of a malformation complex and that it does not exist as a specific syndromic entity. Available evidence indicates that the pathogenesis is multifactorial rather than the result of any simple genetic mechanism.
Abnormalities, Multiple↗
Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures: another type of osteogenesis imperfecta?
A unique connective tissue disorder characterised by the triad of dentinogenesis imperfecta, blue sclerae, and multiple wormian bones has been identified in 20 members of three generations of a large kindred of mixed ancestry in South Africa. The skeletons of affected subjects were moderately osteoporotic but, apart from minimal bowing of the femora and some vertebral flattening in late adulthood, this abnormality produced no untoward sequelae. Bone fragility was present in one young male, while a mother and her daughter had deafness of uncertain relationship with the primary disorder. Dental discolouration and a liability to caries were the only important complications. The condition is best regarded as yet another variety of osteogenesis imperfecta. It is inherited as an autosomal dominant trait with relatively consistent phenotypic expression.
Abnormalities, Multiple↗
Gibbal achondroplasia.
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.
Achondroplasia↗
Bone fusion in the foetal alcohol syndrome.
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.
Adult↗
The orthopaedic implications of the sclerosing bone dysplasias.
Sclerosing bone dysplasias are a group of unusual disorders with important and frequently lethal complications. During the past 8 years more than 80 patients with disorders of this type have been investigated in the Department of Human Genetics, University of Cape Town. It has emerged that a condition in this category 'sclerosteosis', has a high prevalence in individuals of Afrikaner stock and more than 40 affected patients have been studied. Other conditions which have been investigated during this survey include various types of osteopetrosis, pycnodysostosis and craniometaphyseal dysplasia. In each, specific radiographic features facilitate the diagnostic precision which is crucial for effective prognostication and management. Orthopaedic complications are an important aspect of these disorders.
Bone Diseases, Developmental↗
Sclerosteosis in old age.
Sclerosteosis is a rare, progressive disorder in which bone overgrowth causes facial distortion and cranial nerve dysfunction. The intracranial pressure usually becomes elevated and sudden death often occurs in adulthood. Servival into old age is unusual, but we have recently had the opportunity to investigate 2 elderly patients. Their clinical and radiographic features suggest that the rate of progression diminishes in later life, and that in exceptional circumstances survival into old age is possible.
Aged↗
Blood-pressure and its correlates in urban and tribal Africa.
Blood-pressure and associated factors were compared in tribal and urban Xhosa people of Southern Africa. In the urban group blood-pressures were high and rose significantly with age whereas in the tribal group they were low and rose little with age. Indices of obesity including weight, skin-fold thickness, and ponderal index were significantly greater in urban dwellers and correlated strongly with arterial pressure. Dietary sodium and urine-sodium/creatinine ratio were significantly higher in the urban people, but there was no within-population relationship between either dietary sodium or urine-sodium/creatinine ratio and blood-pressure. Plasma-noradrenaline, an index of sympathetic activity, was similar in both populations, as was plasma-renin activity. Low plasma-renin was common and may be genetically determined. Diet and obesity may contribute to the rise in arterial pressure that is a consequence of urbanisation.
Adolescent↗
Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis.
1. Spondylo-epi-metaphyseal dysplasia with progressive, severe kyphoscoliosis and gross joint laxity is a distinctive entity. The clinical and radiographic manifestations of seven affected children are presented and it is concluded that this disorder is probably more common than previously suspected. Autosomal recessive transmission is likely. 2. Skeletal survey is indicated in all patients with infantile idiopathic scoliosis, kyphosis, or kyphoscoliosis. In this context, radiographic studies of the pelvis may be of great diagnostic value. 3. Referal for expert orthopaedic management is essential for all patients with this disorder, as profound disability with pulmonary and spinal complications may be expected.
Adult↗
Osteoglophonic dwarfism.
A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia. The main radiographic features were craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyl. Intelligence was normal and there were no systemic ramifications. The term "osteoglophonic dwarfism" is a succinct and apt designation for this remarkable disorder.
Bone Diseases, Developmental↗
The Ehlers-Danlos syndrome: an analysis of the structure of the collagen fibres of the skin.
The structure of the collagen fibres of the skin in the Ehlers-Danlos syndrome (ED-S) was studied in eight patients with ED-S Type I, three patients with ED-S Type II and three patients with the X-linked Type V. The results show that the reducible cross-links are present and undergo the same maturation process to non-reducible cross-links as in normal skin. Transmission electron microscopy revealed a normal ultrastructure of the collagen fibrils. At a higher morphological level of organization scanning electron microscopy demonstrated progressive increase in fibre bundle disorder from the X-linked to mitis, to gravis, in which the fibres making up the large fibre bundles demonstrated a considerable inability to aggregate.
Adolescent↗
Distal osteosclerosis.
Hyperostosis of the bones of the forearms and lower legs and mild cranial sclerosis were present in five persons in two generations of a South African kindred of mixed ancestry. This disorder, which is clinically innocuous, is inherited as an autosomal dominant trait. Delineation of this disorder to distinguish it from the other inherited sclerosing bone dysplasias permits accurate prognosis and genetic counselling. In view of the unusual anatomical distribution of the abnormalities, the designation "distal osteosclerosis" is proposed for this entity.
Adult↗
Frontometaphyseal dysplasia: autosomal dominant or X-linked?
The clinical and radiographic manifestations in a 45-year-old male with frontometaphyseal dysplasia (FMD) are documented and depicted. Deafness and degenerative osteoarthropathy in weight-bearing joints were the main clinical problems. Widespread patchy cranial sclerosis was reminiscent of Paget's disease, while digital deformity resembled rheumatoid arthritis. On the basis of a review and tabulation of published reports, evidence emerges to support the concept of X-linked inheritance. The relationship between FMD and osteodysplasty remains a matter for speculation.
Bone Diseases, Developmental↗