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P Beighton

Publications and source records attributed to P Beighton.

At least 163 records · Page 9Linked to original sources
PubMed1984

Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases.

We have reviewed the radiographic features of 19 patients with spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL). The salient, diagnostic radiographic manifestations are mild to moderate spondylo-epimetaphyseal dysplasia, progressive infantile kyphoscoliosis, characteristic pelvic, forearm and elbow changes and a highly abnormal bony trabecular pattern. The condition, which is inherited as an autosomal recessive, has only been observed in South Africa among Caucasians, several of whom have German names or German connections. The authors wish to bring the condition to the attention of European radiologists in an attempt to determine the geographic origin of the faulty gene.

Child↗
PubMed1984

Cutaneous manifestations of Gaucher disease.

We reviewed the cutaneous manifestations of type I non-neuropathic Gaucher disease in fifty South African patients. Characteristic changes such as diffuse pigmentation, easy tanning and flitting brown macules were found to be useful pointers to the diagnosis. Other cutaneous changes secondary to infiltration of the marrow and liver were common and important findings.

Gaucher Disease↗
PubMed1984

The syndromic status of sclerosteosis and van Buchem disease.

We have examined 50 persons with sclerosteosis in the Afrikaner community of South Africa and 15 individuals with van Buchem disease in Holland. The clinical and radiographic manifestations of these conditions are very similar, the only notable differences being greater severity and syndactyly in the majority of the patients with sclerosteosis. The Afrikaners have Dutch antecedants and it seems likely that these autosomal recessive disorders result from homozygosity of the same faulty genes. The phenotypic variation may be due to the epistatic effect of modifying genes in the Afrikaner population.

Adult↗
PubMed1984

Manifestations and natural history of idiopathic hemihypertrophy: a review of eleven cases.

Idiopathic hemihypertrophy is a specific entity which is distinct from the numerous other causes of limb overgrowth. In our investigation of eleven new cases in South Africa and Australia, no genetic or other aetiological factors could be recognised. There were no differences in bone age between the normal and hypertrophied limbs and the pattern of growth through life showed that relative body proportions remained the same. Idiopathic hemihypertrophy is associated with mild mental retardation, genito-urinary anomalies and an oncogenic potential. Regular clinical surveillance for abdominal tumours is recommended.

Abnormalities, Multiple↗
PubMed1984

The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity.

Spondylo-epi-metaphyseal dysplasia with joint laxity (SEMDJL) is characterized by severe dwarfism, articular hypermobility and progressive spinal malalignment. The clinical manifestations of 18 affected persons in 13 families of the Afrikans-speaking community of South Africa have been analysed and it has become evident that survival into adulthood is unusual. SEMDJL is inherited as an autosomal recessive trait.

Adolescent↗
PubMed1984

Collagen defect of bone in osteogenesis imperfecta (Type I). An electron microscopic study.

Osteogenesis imperfecta (OI) is an inherited disorder of connective tissue metabolism characterized by fragility of the bones, resulting in multiple fractures. In this study electron microscopic examination of the osteoid region of iliac crest bone biopsy specimens from a 55-year-old man and his three sons (18, 21, and 25 years of age) affected with the common Type I (autosomal dominant) form of OI revealed collagen fibrils consistently smaller in diameter than those from normal age-matched control subjects, with the majority of OI fibrils measuring 0.04-0.06 micron, as opposed to 0.06-0.08 micron in the control subjects. This defect may be due to the biosynthesis of Type III collagen, not normally found in adult lamellar bone or, more likely, to a failure of maturation of Type I fibrils to their normal diameters, possibly owing to the increased levels of hydroxylysine previously reported in OI collagen, a factor known to be inversely related to fibril diameter.

Adolescent↗
PubMed1983

Limb overgrowth--clinical observations and nosological considerations.

Limb or digital overgrowth occurs in a number of rare conditions. Hypertrophy is present at birth in cases of macrodactyly simplex congenita, macromelia, hemihypertrophy, and the Klippel- Trenaunay-Weber syndrome. Late-onset overgrowth is a feature of macrodystrophia lipomatosa and neurofibromatosis. We have reviewed more than 40 patients with overgrowth disorders in order to clarify problems of differentiation and classification, and in this article we have depicted and discussed typical cases. The course, prognosis and complications differ in these autonomous conditions; for this reason accurate diagnosis is vital.

Adolescent↗
PubMed1983

Thalassaemia in the Greek community of Cape Town.

A survey of the thalassaemias has been undertaken in the Greek community of Cape Town. In a sample of 250 persons 3 were found to have the alpha-thalassaemia trait, and its prevalence can therefore be estimated to be 1,2%. Neither haemoglobin H disease nor homozygous alpha-thalassaemia was encountered, but 2 persons with homozygous beta-thalassaemia (thalassaemia major) who were not part of the survey were traced through the Western Province Blood Transfusion Service. Twenty-three of the 250 subjects were found to have heterozygous beta-thalassaemia (thalassaemia minor), the prevalence of which could be calculated at 9,2%, with a gene frequency of 0,046. The thalassaemias therefore warrant consideration whenever an individual of Greek stock in Cape Town presents with an anaemia.

Blood Cell Count↗
PubMed1983

Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder.

A progressive and potentially lethal skeletal dysplasia, spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL), has been recognized in 18 children from the Afrikaner community of South Africa. This serious disorder, which is inherited as an autosomal recessive trait, warrants diagnostic consideration whenever an infant or child from this population group presents with dwarfism, deformity, articular hypermobility and spinal malalignment. In view of the clinical and genetic implications, diagnostic precision is of great importance.

Bone Diseases, Developmental↗
PubMed1983

Inherited disorders in the Afrikaner population of southern Africa. Part II. Skeletal, dermal and haematological conditions; the Afrikaners of Gamkaskloof; demographic considerations.

In addition to the genetic conditions reviewed in Part I of this article, sclerosteosis, spondyloepimetaphyseal dysplasia, lipoid proteinosis, keratolytic winter erythema and various haematological disorders also occur in high frequency in the Afrikaner community. The recognition of the presence of these serious inherited disorders is important in differential diagnosis and is fundamental to the establishment of public health programmes for amelioration and prevention.

Bone Diseases↗
PubMed1983

Inherited disorders in the Afrikaner population of southern Africa. Part I. Historical and demographic background, cardiovascular, neurological, metabolic and intestinal conditions.

Certain genetic disorders occur with unusually high frequency in the Afrikaner population of southern Africa. Conditions of this type (reviewed in Part I of this article) include familial hypercholesterolaemia, progressive familial heart block, Huntington's chorea, porphyria variegata, Gaucher's disease, cystic fibrosis and familial colonic polyposis. This genetic situation is explicable to some extent on the basis of the demographic development of the Afrikaner population during the 14 generations since the arrival of the first immigrants from Holland more than 330 years ago.

Colonic Polyps↗
PubMed1983

Skeletal complications in osteogenesis imperfecta. A review of 153 South African patients.

Osteogenesis imperfecta (OI) is one of the most important inherited skeletal dysplasias. Clinical, radiographic and genetic investigations have been undertaken in a series of 153 South African patients from 84 separate families. A further 60 relatives in whom a definite diagnosis could be made were not available for examination. Seventy-nine patients from 39 families had type I OI (mild skeletal fragility, blue sclerae, autosomal dominant inheritance). The orthopaedic complications were mild and stature was relatively normal. Only 26 patients had experienced more than 10 fractures. Trunk shortening, often with mild kyphoscoliosis, was present in 11 patients. One girl was paraplegic, but none of the other patients had evidence of spinal cord compression. Persistent backache was troublesome in 4 cases. Two of the patients were chair-bound and 9 used crutches or wore calipers. Sixteen patients (sporadic cases) had type II OI (lethal in the perinatal period, autosomal recessive inheritance). The orthopaedic importance of this form of OI lies in its differentiation from other types for the purposes of prognostication and planning of long-term management. Twenty-one patients from 14 families had type III OI (severe fracturing and deformity, white sclerae, autosomal recessive inheritance). Orthopaedic complications predominated. Although only 6 of the 21 patients were adults, 16 were dwarfed, 14 had experienced more than 20 fractures and 19 had significant limb bowing. Seven were chair-bound and 9 walked with crutches or calipers.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1983

Gaucher's disease in the black population of South Africa. A case report.

The diagnosis of the non-neuropathic form of Gaucher's disease was confirmed by haematological and enzymatic investigations in a Black girl. The aetiological relationship of this condition with Gaucher's disease in other populations is uncertain, but lack of expression of the enzyme defect in the white blood cells in our patient might be significant in this context. This case serves to emphasize that Gaucher's disease enters into the differential diagnosis of unexplained splenomegaly, irrespective of the ethnic background of the affected person.

Adolescent↗
PubMed1983

Neural tube defects in the Cape Town area, 1975-1980.

During the period 1975-1980, 105 infants out of a total of 116 859 delivered at selected hospitals in the Cape Town area had a neural tube defect. The combined incidence of spina bifida and anencephaly in Whites was approximately 1/300 births, which is similar to that generally encountered in the UK. However, the incidence in other ethnic groups was appreciably lower at 1/1250 and 1/2000 births for the Coloured (mixed ancestry) and Black groups respectively.

Anencephaly↗
PubMed1983

Molecular technology in clinical genetics.

Molecular technology will play an important role in clinical genetics in the near future. In many inherited disorders the recognition of heterogeneity, carrier detection and antenatal diagnosis will be made feasible by these new methods. The basic molecular techniques are reviewed in this article, in order to provide a background for the understanding of their clinical applications.

Cloning, Molecular↗
PubMed1983

The Waardenburg syndrome in deaf children in southern Africa.

Eighty-nine children with the Waardenburg syndrome were identified during diagnostic surveys of 3006 deaf children attending 19 special schools in southern Africa. Since a hearing deficit is present in only a minority of persons with the Waardenburg syndrome, it can be estimated that there are several thousand individuals with the faulty gene among the local population. The syndrome was encountered in deaf children of White, Black and mixed ancestry but not in Indian scholars. There were marked discrepancies in prevalence in different tribal groups. In several sets of deaf siblings, one individual had the classic syndromic stigmata while the other had apparently undifferentiated perceptive deafness. On this basis it is possible that phenotypic expression of the Waardenburg gene in some persons may be limited to a hearing deficit. Our observations indicate that the sole manifestation of the faulty gene can be irides of a uniform, striking and unusual blue colour, with or without congenital deafness.

Abnormalities, Multiple↗