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Biomedical subjects

P Beighton

Publications and source records attributed to P Beighton.

At least 91 records · Page 5Linked to original sources
PubMed1991

The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa.

Comprehensive genealogical investigations have been undertaken in eight families in the Afrikaans-speaking community of South Africa, in which at least one person had spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). All eight families had ancestral links with two females. These women had multiple marriages and cohabitations during the late 17th and early 18th centuries and they were 12 generations removed from the affected individuals. The identification of these common progenitors confirmed the syndromic homogeneity of SEMDJL in South Africa and permitted recognition of numerous obligate heterozygotes, thus facilitating biomolecular investigations of the basic defect.

Chromosome Mapping↗
PubMed1991

Piebaldism: an autonomous autosomal dominant entity.

Piebaldism is a disorder in which the major clinical features are patchy hypopigmentation of the skin and a white forelock. The manifestations of piebaldism overlap with those of other genodermatoses, in particular the Waardenburg syndrome, and it is uncertain whether piebaldism is a distinct entity. We have documented a family in which seven affected members in three generations have gross piebaldism without any additional stigmata. The intrafamilial phenotypic consistency is suggestive that this autosomal dominant disorder has independent syndromic status. Linkage studies using conventional gene markers failed to identity the locus of the faulty gene.

Adolescent↗
PubMed1991

Hearing impairment and pigmentary disturbance.

Hearing impairment is a variable manifestation of several heritable conditions in which pigmentation of the skin or eyes is abnormal. Some of these disorders are well recognized although uncommon, while others are virtually private syndromes. Practical issues concerning the major conditions of this type are reviewed in this article on a basis of a survey of 4452 profoundly deaf children attending special schools in Southern Africa, together with investigations in affected families. The Waardenburg syndrome (WS), which is the most common deafness-depigmentation disorder, was present in 121 (2.7%) of the 4452 deaf scholars. Further studies in 7 multigeneration affected families confirmed phenotypic variability and indicated a need for internationally agreed diagnostic criteria. In 4 Cape Town families of mixed ancestry the WS-I gene was linked to the 2q37 locus, but in another large kindred no linkage could be demonstrated. Nonallelic heterogeneity is possible. There is uncertainty concerning possible interrelationship between WS and piebaldism. The phenotypic consistency of a South African family in which 7 persons in 3 generations had gross piebaldism in the absence of disturbance of hearing or involvement of the eyes and periorbital structures is suggestive that this disorder and WS are separate entities. Molecular investigations indicate that the gene for piebaldism in this kindred is not situated at the WS-I locus 2q37. Deafness and hyperpigmentation are present in neurofibromatosis type II (acoustic neuromata) and the multiple lentigines syndrome, while retinal pigmentation is a feature of the Usher syndrome. This latter entity is apparently much less common in Southern Africa than in other parts of the world.

Albinism↗
PubMed1991

Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.

Namaqualand spondyloepiphyseal dysplasia (NSED) is a mild autosomal dominant form of spondyloepiphyseal dysplasia in which changes are maximal in the femoral capital epiphyses and the vertebral bodies. The condition is present in a large multigeneration South African family, and it is clinically important by virtue of severe progressive degenerative osteoarthropathy of the hip joint, which frequently necessitates prosthetic joint replacement in adulthood. Linkage studies using molecular markers have shown that the loci for the NSED and type II collagen genes are linked (LOD score 7.98 at a recombination fraction of .00).

Adult↗
PubMed1990

Beukes familial hip dysplasia: an autosomal dominant entity.

An unique inherited skeletal disorder had been identified in 47 patients in 6 generations of an Afrikaner family in Southern Africa. Pain develops in the hip joints in early childhood in the majority of affected persons and the course is progressive with severe crippling by early adulthood. General health is good, height is not significantly reduced, and there is no extra-skeletal involvement. The major changes are in the femoral capital epiphyses, which are severely flattened and irregular; secondary osteoarthrosis develops at an early age. Pedigree data indicate autosomal dominant inheritance with a reasonably consistent phenotypic expression. In view of the fact that only members of the Beukes family have been identified as suffering from the condition, the designation "Beukes familial hip dysplasia" (BFHD) is proposed.

Adolescent↗
PubMed1990

Boomerang dysplasia.

Boomerang dysplasia is a recently delineated form of neonatally lethal dwarfism. A fourth case has been investigated and an increased range of phenotypic manifestations is documented in this article. So far all affected infants have been males and X-linked recessive inheritance is possible. Diagnostic criteria for Boomerang dysplasia are outlined.

Dwarfism↗
PubMed1990

Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.

A mild autosomal dominant form of spondyloepiphyseal dysplasia (SED) is present in several generations of a South African family of English stock. This phenotype differs from that of any other previously described. Although type II collagen defects have been found in some families with SED congenita, the phenotype in our family showed discordant segregation with COL2A1 gene associated restriction fragment length polymorphisms (RFLPs), the markers for the structural locus of type II collagen. It is evident that the SED group of disorders is heterogeneous.

Adolescent↗
PubMed1990

Delta F508 testing of the DNA bank of the Royal Manchester Children's Hospital.

Details of haplotype and delta F508 status from various populations represented in the cystic fibrosis (CF) DNA bank of the Royal Manchester Children's Hospital are provided, together with information on the association of genotype and clinical status. Clinical details and DNA analyses from native English in the North-West and South-West of England (Bath), from Lancashire Pakistani families and from Afrikaans Namibian families are compared. A 78.5% incidence of delta F508 has been found in English families. Compound heterozygotes with CF and only one delta F508 gene have an increased likelihood of having milder disease, with less Pseudomonas isolated from sputum and relatively more showing either no regular respiratory pathogens or colonisation with Staphylococcus. There is also a relative increase in meconium ileus in these compound heterozygotes. The diagnosis of CF may be in doubt in some subjects negative for delta F508. Some of the Bath families have unusual haplotypes for an English population and a compound heterozygote delta F508/delta I507 has been found. There is evidence from metD analysis of the founder effect in the Afrikaans Namibian families, who have a high delta F508 incidence.

Cystic Fibrosis↗
PubMed1990

Plastic surgery in pseudoxanthoma elasticum: experience in nine patients.

Nine women between the ages of 22 and 56 years underwent cosmetic surgery for correction of the severe cutaneous stigmata of pseudoxanthoma elasticum (PXE). The outcome was generally favorable, and follow-up for up to 15 years showed only moderate regression of the skin manifestations. No serious intraoperative or postoperative complications occurred, although tissue friability, poor wound healing, and keloid formation were noted in a minority of persons. An unexpected problem of extrusion of calcium particles through the surgical wound occurred in two individuals. This resulted in delayed healing and unsightly scars.

Adult↗
PubMed1990

Marfan syndrome: a diagnostic dilemma.

During a 17-year period (1971-1988), the Marfan syndrome was diagnosed in 66 patients seen through the Department of Human Genetics, Medical School, University of Cape Town. Following reappraisal and application of the Pyeritz criteria, this diagnosis was confirmed in 33. Of the others, 17 with tall stature and a Marfanoid habitus had insufficient additional manifestations for firm diagnosis and were eliminated from the series. Sixteen had Marfanoid habitus, tall stature, arachnodactyly and other abnormalities which might have indicated the presence of a different syndrome. The difficulty in making a clinical diagnosis of the Marfan syndrome is stressed and emphasizes the need for a biomolecular marker.

Adolescent↗
PubMed1990

Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.

The segregation of COL1A1 and COL1A2, the two genes which encode the chains of type I collagen, was analyzed in 38 dominant osteogenesis imperfecta (OI) pedigrees by using polymorphic markers within or close to the genes. This was done in order to estimate the consistency of linkage of OI genes to these two loci. None of the 38 pedigrees showed evidence of recombination between the OI gene and both collagen loci, suggesting that the frequency of unlinked loci in the population must be low. From these results, approximate 95% confidence limits for the proportion of families linked to the type I collagen genes can be set between .91 and 1.00. This is high enough to base prenatal diagnosis of dominantly inherited OI on linkage to these genes even in families which are too small for the linkage to be independently confirmed to high levels of significance. When phenotypic features were compared with the concordant collagen locus, all eight pedigrees with Sillence OI type IV segregated with COL1A2. On the other hand, Sillence OI type I segregated with both COL1A1 (17 pedigrees) and COL1A2 (7 pedigrees). The concordant locus was uncertain in the remaining six OI type I pedigrees. Of several other features, the presence or absence of presenile hearing loss was the best predictor of the mutant locus in OI type I families, with 13 of the 17 COL1A1 segregants and none of the 7 COL1A2 segregants showing this feature.

Chromosomes, Human, Pair 17↗
PubMed1989

Cataracts, alopecia, and sclerodactyly: a previously apparently undescribed ectodermal dysplasia syndrome on the island of Rodrigues.

An unique autosomal recessive ectodermal dysplasia is present in 5 sibs from the Indian Ocean island of Rodrigues. The main manifestations are total congenital alopecia, bilateral congenital cataracts, and skin changes of the hands and feet including sclerodactyly, hyperkeratosis, contractures, and pseudoainhum formation. The phenotype differs from that of other genetic ectodermal dysplasias and independent syndromic status is probable.

Abnormalities, Multiple↗
PubMed1989

Two rare developmental defects of the lower limbs with confirmation of the Lewin and Opitz hypothesis on the fibular and tibial developmental fields.

We report on two unrelated patients with malformations of the lower limbs. One had a unilateral apparent doubling of the volume of the femur with distal bifurcation, shortness of the tibiae, absence of fibulae, and lateral ray deficiencies of both feet. The other had a partial duplication of the distal left femur, hypoplasia and proximal dislocation of the ipsilateral tibia, syndactyly of the right 1st and 2nd toes, and preaxial polydactyly of the left foot. This report supports the hypothesis of Lewin and Opitz on the presence of two distinct fields of development: the fibular and the tibial.

Abnormalities, Multiple↗
PubMed1989

Emery-Dreifuss syndrome and X-linked muscular dystrophy with contractures: evidence for homogeneity.

We report on a family in which individuals have clinical features of both Emery-Dreifuss syndrome (EMD) and X-linked muscular dystrophy with contractures (XLMDC). Molecular studies on this kindred showed linkage between the disorder and probe DXS 52 (St14) located at Xq28. The gene for conventional EMD has previously been mapped to this region and our molecular findings therefore suggest that EMD and XLMDC represent the phenotypic spectrum of the same mutated gene rather than heterogeneity, as sometimes postulated.

Chromosome Mapping↗
PubMed1989

Radial ray defects and associated anomalies.

In a series of 34 patients with defects of the radial ray, 24 individuals had additional clinical manifestations. A firm syndromic diagnosis could be reached in 17 persons (TAR syndrome 4, Holt-Oram syndrome 8, Fanconi anaemia 2, VATER association 2, Radial ray-choanal atresia 1). In the remainder, no specific diagnosis could be established. The heterogeneity of radial ray syndromes has important implications for prognostication and genetic counselling.

Abnormalities, Multiple↗
PubMed1989

Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome).

Five children from three unrelated families were born with symmetrical contractures of the knees, ankles and feet. An initial diagnosis of arthrogryposis multiplex was made, but frequent fracturing occurred after walking commenced and it was then recognised that the children had osteogenesis imperfecta. The pathogenesis of the congenital contractures is unknown, but the symmetry and lack of evidence of prior fracturing is suggestive of articular immobility during early intra-uterine development. The consistency of the anatomical distribution of the contractures, in the setting of a uniform OI phenotype, is suggestive of syndromic identity. A similar case was documented by Alfred Bruck in 1897 and we propose that the eponymous designation "Bruck syndrome" should be applied to the disorder.

Adolescent↗