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Biomedical subjects

P H Beighton

Publications and source records attributed to P H Beighton.

At least 19 recordsLinked to original sources
PubMed2002

Developmental absence of the premolar teeth: dental management.

A boy aged 11 years presented with dental pain, several carious teeth and a localized area of acute necrotizing ulcerative gingivitis (ANUG). Developmental absence of the premolar teeth was notable and additional anomalies included mid-facial hypoplasia, mandibular prognathism, transposed teeth and delayed exfoliation of the deciduous teeth. These abnormalities have significant oral, dental, orthodontic and orthognathic implications.

Anodontia↗
PubMed2002

Oro-dental manifestations of the Schwartz-Jampel syndrome.

A boy with the Schwartz-Jampel syndrome (chondrodystrophic myotonia) had a number of oro-dental complications. These included difficulty in tooth extraction and orthodontic care due to a small oral aperture and rigidity of the temporo-mandibular joints. General anaesthesia was hazardous because of a propensity to malignant hyperthermia, and endotracheal intubation was difficult because of shortness and rigidity of the neck and the small size of the laryngeal structures. Awareness of these potential problems is crucial for anaesthesia and comprehensive dental management. The radiological demonstration of dentigerous cysts is a hitherto unreported observation in this disorder.

Adolescent↗
PubMed1998

Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.

The type II collagenopathies include a wide spectrum of phenotypes ranging from mild spondylo epiphyseal dysplasia (SED) to severe achondrogenesis/hypochondrogenesis. Several attempts have been made at providing phenotype-genotype correlations in this group of disorders. In this report we discuss a South African family in which four members have a phenotype resembling Stickler syndrome type 1. Ocular problems and conductive deafness predominate, while skeletal changes resemble those of a mild form of multiple epiphyseal dysplasia (MED). In distinction to the classical form of Stickler syndrome, the affected persons have stubby digits. DNA analysis of the exons of the COL2A1 gene documented a C-T transversion in exon 39, resulting in an Arg704Cys substitution in the triple helical domain of the type II collagen peptide; this nontermination mutation may be indicative of further heterogeneity in the Stickler group of disorders or of a new syndrome amongst the type II collagenopathies.

Abnormalities, Multiple↗
PubMed1997

Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.

Multiple epiphyseal dysplasia is broadly categorised into the more severe Fairbank and the milder Ribbing types. In this paper we document mild MED in a South African kindred, and demonstrate that heterozygosity for a mutation in the cartilage oligomeric matrix protein (COMP) gene causes the condition. The mutation, C1594G, implies a N523K substitution, altering a residue at the carboxyl-terminal end of the calmodulin-like region of COMP. The identification of this mutation demonstrates that the spectrum of manifestations from mild MED through pseudoachondroplasia can all be produced by structural mutations in COMP.

Adult↗
PubMed1992

Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11.

Usher syndrome is the most commonly recognized cause of combined visual and hearing loss in technologically developed countries. There are several different types and all are inherited in an autosomal recessive manner. There may be as many as five different genes responsible for at least two closely related phenotypes. The nature of the gene defects is unknown, and positional cloning strategies are being employed to identify the genes. This is a report of the localization of one gene for Usher syndrome type I to chromosome 11q, probably distal to marker D11S527. Another USH1 gene had been previously localized to chromosome 14q, and this second localization establishes the existence of a new and independent locus for Usher syndrome.

Base Sequence↗
PubMed1991

Duchenne muscular dystrophy--a molecular service.

In 1987 a carrier detection and prenatal diagnostic service for Duchenne muscular dystrophy using molecular technology was instituted at the Department of Human Genetics, University of Cape Town, to serve affected families in southern Africa. DNA samples from 100 affected male subjects and 350 of their relatives from a total of 110 families have been banked. To date restriction fragment length polymorphism (RFLP) analysis and deletion screening has been performed on the DNA of 60 male patients and 116 female relatives at risk of being carriers of the faulty gene. The DNA probes used were pERT 87-1 (MspI polymorphism) pERT 87-15, pXJ1.1, pXJ2.3 (TaqI, polymorphism), pXJ1.2 (BclI polymorphism), P20 (MspI and EcoRV polymorphism) and the cDNA probes. DNA deletions have been detected in 30 of the 60 affected boys and the carrier risks of 49 women have been determined by RFLP analyses. In those families where the risks were uncertain because the affected males had died, prenatal exclusion testing was offered to potential carriers. Two pregnancies were terminated when male fetuses were shown to be affected, since they had the same deletion as that observed in the proband.

Black People↗
PubMed1990

Genetic heterogeneity in tuberous sclerosis: phenotypic correlations.

There is increasing evidence for genetic heterogeneity in tuberous sclerosis (TSC) on the basis of linkage analysis in affected kindreds. We have performed a detailed assessment of an affected South African family in which there is no evidence of linkage to chromosome 9 markers. The affected persons have atypical clinical features, namely prominent nuchal skin tags, a confetti pattern of hypopigmentation of the skin of the lower legs, and absence of ungual fibromata. Further investigation of these unusual phenotypic features is warranted in order to determine whether these lesions are consistently present in families in whom the gene for TSC is not on 9q34. We conclude that confetti depigmentation and nuchal skin tags may be clinical pointers to an alternative locus for TSC.

Female↗
PubMed1988

Autosomal dominant antecubital pterygium: syndromic status substantiated.

An autosomal dominant (AD) antecubital pterygium syndrome has been documented on the Indian Ocean Island of Rodrigues, and 11 affected family members in five generations have been studied over four decades. The consistent features include a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension and missing skin creases over the terminal inter-phalangeal joints of the fingers. On the basis of our observations, we consider that this condition warrants acceptance as an autonomous AD entity.

Arm↗
PubMed1985

Costovertebral anomalies in osteogenesis imperfecta.

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.

Biomechanical Phenomena↗
PubMed1984

The prevalence of hallux valgus in South African males.

The prevalence of hallux valgus and its relationship to the metatarsal angles have been assessed in South African males from two Black communities and one White community. After the age of 11 years there is a small increase in the metatarsal angle of White males, but this remains within the normal range. In comparison with White females, who seem to be predisposed to the disorder of hallux valgus, neither White nor Black males show a significant increase in hallux angles after adolescence. Males of all ages and race groups seldom develop clinical hallux valgus, and this apparent resistance to the deformity is associated with a minimal increase in the metatarsal angle, and therefore in the width of the foot.

Adolescent↗
PubMed1984

Diagnostic considerations in arthrogryposis syndromes in South Africa.

Congenital rigidity of multiple joints poses a difficult diagnostic and therapeutic problem. There are also semantic difficulties as the non-specific term "arthrogryposis" is often used for any individual with congenital limitation of joint movement. Many distinct syndromes present in this way and as they differ in their course, prognosis and genetic implications, diagnostic precision is crucial. A diagnostic analysis is given of 247 South African patients in whom "arthrogryposis" had been recorded, and the pathogenesis and nosology of congenital contractures are discussed in this paper. Three of these stiff joint conditions were originally described in South African patients, i.e. Liebenberg synostosis syndrome, digitotalar dysmorphism, and the Gordon syndrome of autosomal dominant cleft palate, camptodactyly and club feet.

Arthrogryposis↗
PubMed1981

Huntington's chorea on the island of Mauritius.

The prevalence of Huntington's chorea in the population of European descent on the island of Mauritius is 1 in 2 166. All affected persons on the island are related and probably descend from a common ancestor who emigrated from France around 1800. In view of the large number of persons at risk, Huntington's chorea has important medical and social implications for the inhabitants of Mauritius.

Female↗
PubMed1981

The prevalence of hallux valgus in three South African populations.

The prevalence of hallux valgus and its relationship to the metatarsal angles have been assessed in females between the ages of 2 and 20 years in three populations: an urban White community, an urban Black community and a rural Black Community. By the age of 10 years the mean hallux angle is significantly greater in the White girls than in girls in the two Black groups. The angle between the first and second metatarsals is greater in the White than in the black children and this difference increases throughout childhood and adolescence. It is suggested that young White girls may be predisposed to the abnormality of hallux valgus by having significantly greater metatarsal angles.

Adolescent↗
PubMed1980

The prevalence of Huntington's chorea in South Africa.

The results of a national investigation to determine the prevalence of Huntington's chorea in South Africa are presented. A total of 481 persons who have died from or are presently suffering from the disorder have been identified. The prevalence rate of 0,1 per million in the South African Negro population is much less than the estimate of 22 per million in the White and Coloured groups. It is apparent that the great variation in the ethnic distribution of the disease is a reflection of the diverse origins of the different population groups of South Africa.

Black People↗
PubMed1980

The origin of Huntington's chorea in the Afrikaner population of South Africa.

Huntington's chorea is prevalent among the Afrikaner population of South Africa. The origin of the gene for the disorder in this population group has been traced over 14 generations from the present time to the days of the first free burghers at the Cape of Good Hope. Over 200 affected individuals in more than 50 supposedly unrelated families have been found to be ancestrally related through a common progenitor in the 17th century.

Female↗
PubMed1980

A comparison of the prevalence of hallux valgus in three South African populations.

The prevalence of hallux valgus and its relationship to the metatarsal angles and the shape of the foot have been assessed in women over 50 years of age from three populations: an urban White community, an urban Black comunity, and a rural Black community. Hallux valgus was significantly more common in the Whites than in either of the Black groups; there was no significant difference in the prevalence in rural and urban Blacks. Likewise, the angle between the first and second metatarsals was significantly greater in White women (mean 10,80 degrees) than in Black women (mean 8,21 degrees for urban Blacks and 7,05 degrees for rural Blacks). From this study it could be deduced whether the increased metatarsal angle was the cause of the more frequent appearance of hallux valgus in White women.

Black or African American↗