Search PubMed⌕ Search

Biomedical subjects

D L Viljoen

Publications and source records attributed to D L Viljoen.

34 records · Page 2Linked to original sources
PubMed1989

Handicapping and genetic disorders in Zimbabwean institutions: a diagnostic survey.

A diagnostic survey was undertaken in twelve Zimbabwean institutions for deaf, crippled and mentally handicapped individuals. A total of 1396 persons were evaluated of whom 885 were deaf, 356 physically disabled and 155 were mentally retarded. Acquired causes formed the largest aetiological group throughout the survey, but a high frequency of inherited crippling disorders was encountered (125 individuals). Down Syndrome accounted for almost one third of children with mental handicap. Undifferentiated autosomal recessive deafness was found in 87 persons, most of whom were from the Shona people.

Deafness↗
PubMed1988

Childhood deafness in Zimbabwe.

An investigation involving 885 children in five institutions for the deaf in Zimbabwe was conducted with a view to determining the cause of hearing loss. The cause of deafness in 40% of cases was an infectious or infective disorder, while in 43% the basic defect was unknown. There was a seemingly high prevalence of autosomal recessively inherited undifferentiated deafness among children from the Shona tribe. Conversely, an apparent underrepresentation of genetic syndromic disorders was evident in both major tribal groups. Possible explanations for these findings are discussed.

Adolescent↗
PubMed1988

Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia?

Polyostotic fibrous (McCune-Albright) dysplasia is an uncommon nonhereditable disorder characterized by localized or widespread cystic changes in the skeleton. The limb bones are predominantly affected; craniofacial involvement is rare. We have encountered a severely affected man, with the additional manifestation of massive craniofacial hyperostosis. It is questionable whether this condition is an autonomous entity or represents the end of the spectrum of severity of polyostotic fibrous dysplasia.

Adult↗
PubMed1988

A new form of hypohidrotic ectodermal dysplasia.

We report on a 17-yr-old young woman with an apparently new tricho-onycho-hypohidrotic ectodermal dysplasia. The manifestations include primary interdigital webbing, contractures of fingers and toes, conjunctivitis from narrowing of nasolacrimal ducts, and a small cortical opacity in the lens of the left eye. Psychosocial problems due to the cosmetic appearance are severe. Cause is uncertain.

Abnormalities, Multiple↗
PubMed1988

Partial trisomy 9--further delineation of the phenotype.

A patient with partial trisomy 9 (47,XX,+9pter----q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low-set ears, and dislocatable knees. The phenotypic findings are compared with those of other documented cases of total trisomy 9.

Abnormalities, Multiple↗
PubMed1988

Cutaneous manifestations of the Proteus syndrome.

The Proteus syndrome is a rare disorder in which the major manifestations are skeletal overgrowth, digital hypertrophy, exostoses of the skull, and hamartomatous tumors. Numerous skin lesions also occur. We treated six individuals, all of whom had the features unique to this syndrome of marked hypertrophy of the skin of the soles. The palms were similarly involved in two patients. Light microscopy of biopsy material from thickened areas of the soles showed elongation of the cytoplasm of the basal cells. Large epidermal nevi were present in three persons, as were linear macular lesions with areas of depigmentation and hyperpigmentation.

Abnormalities, Multiple↗
PubMed1987

Childhood deafness in the Indian population of Natal.

A study of 212 Indian children at the V.A. Naik School for Deaf was undertaken to determine the aetiology of their deafness. Undifferentiated autosomal recessive deafness was more frequent among Muslim patients--a population with a high incidence of consanguineous marriages--than among Tamils and Hindus. Although fewer than expected genetic syndromes were identified, Waardenburg's syndrome was present in 2% of the pupils. A firm diagnosis of acquired deafness was obtained in 32 children (15%).

Adolescent↗
PubMed1987

Proteus syndrome in southern Africa: natural history and clinical manifestations in six individuals.

Six individuals with Proteus syndrome have been investigated; 2 were adults and the others ranged in age from 2 to 11 years. They had a wide spectrum of manifestations and severity together with the hitherto unreported anomalies of penile hypertrophy, macro-orchidism, goiter, and failure of breast development. These findings were associated with normal endocrine function. Bizarre digital overgrowth, hemihypertrophy, thickened palms and soles, exostoses of the skull, and multiple hamartomata were common anomalies. Early overgrowth of limbs and digits occurred in several instances but the ultimate stature of 2 adults was normal. Surgical intervention offers cosmetic and orthopedic benefits, but these must be assessed in the light of potential post-operative complications.

Adult↗
PubMed1987

The Proteus syndrome: the magnetic resonance and radiological features.

The Proteus syndrome is a recently delineated group of skeletal and mesodermal malformations. Its characteristics include hemihypertrophy and fatty/lymphangiomatous masses. This description outlines the imaging sequences available to the radiologist. It is mainly concerned with the use of magnetic resonance imaging. This shows the extent of the mesodermal malformation with particular reference to the extent of intra abdominal infiltration.

Child, Preschool↗
PubMed1987

Heterogeneity of pseudoxanthoma elasticum: delineation of a new form?

Sixty-four patients with pseudoxanthoma elasticum (PXE) were investigated in a nationwide study within South Africa and Zimbabwe. Thirty-nine individuals formed a distinct clinical subgroup. These persons were found exclusively among people of Afrikaner descent, whose origins are mainly derived from Dutch and French-Huguenot stock. This disorder was inherited as an autosomal recessive trait and presented mild to moderate cutaneous and cardiovascular manifestations. However, after the third decade of life severe visual impairment developed and culminated in blindness in 8 people by the age of 50. The cause of the visual defect was progressive extension of angioid streaks into the macula with neovascularization and haemorrhage. Laser therapy may have prevented further bleeding in 4 instances. The severity of ocular involvement contrasted with the mildness of the skin changes, and in this respect the condition seems to differ from previously delineated autosomal recessive forms of PXE.

Adolescent↗
PubMed1987

The obstetric and gynaecological implications of pseudoxanthoma elasticum.

The obstetric aspects of 54 pregnancies in 20 women with pseudoxanthoma elasticum (PXE) have been reviewed. Forty live births were delivered vaginally, three of them were preterm. Twelve pregnancies miscarried at between 6 and 14 weeks gestation and two were terminated in the 8th week for psychiatric reasons. Fetal losses in two instances were attributed to cervical incompetence. One baby died at 4 days of age from a complex congenital cardiac anomaly. No abnormal maternal genital or gastrointestinal bleeding was recorded. Hypertension complicated seven pregnancies. Abdominal striae developed in all patients, the severity of which correlated with weight gain and the number of pregnancies. All the women had normal gynaecological histories, none had excessive menstrual bleeding or increased episodes of menorrhagia. The eye, blood vessels and other organ systems involved in PXE were unaffected by pregnancy. Apart from the increased risk of first trimester miscarriage and the cosmetic deterioration of the abdominal skin, there are few serious complications in pregnancy in patients with PXE.

Abortion, Spontaneous↗
PubMed1984

Pseudoxanthoma elasticum in South Africa--genetic and clinical implications.

After investigation by a multidisciplinary team, 19 cases of biopsy-proven pseudoxanthoma elasticum are described. Evidence for an increased gene frequency in the Afrikaner population was found, as was support for the claim of genetic heterogeneity in the disorder. The well-described clinical manifestations involving the eyes, skin and cardiovascular system were seen, as were more rarely reported features such as acne, telangiectasia of the lips and bilateral cataracts. Mitral valve prolapse and gastro-intestinal haemorrhage were not found in our patients, although there are several reports in the literature.

Adolescent↗
PubMed1984

The split-hand and split-foot anomaly in a central African Negro population.

The split-hand and split-foot anomaly (ectrodactyly) was identified in five individuals of three generations of a kindred from a remote African Village; seven more were known to be affected in a further two generations. The malformations were confined to the hands and feet and inherited as an autosomal dominant trait with variable expression. Bilateral triphalangeal thumbs were present in three of the affected individuals.

Abnormalities, Multiple↗
PubMed1983

The epidemiology of conjoined twinning in Southern Africa.

Thirty-one sets of conjoined twins were born in Southern Africa during the period February 1974 to May 1982 with a striking increase in incidence in 1974 and 1975. There was no ethnic or social predilection, but clustering of cases occurred in a remote area of Zimbabwe. No aetiological agent was discovered, and there was no seasonal variation in the time of conception. Female conjoined twins accounted for 62% of cases, and twenty sets were of the thoracopagus type. Four pairs were separated, three of which were of the xiphopagus subtype and have survived.

Africa, Southern↗
PubMed1983

Familial aggregation of streptomycin ototoxicity: autosomal dominant inheritance?

Eight members of a large kindred of mixed ancestry from a remote rural area of South Africa were investigated for deafness. In each, severe permanent perceptive hearing loss had developed during antituberculous therapy with streptomycin sulphate in conventional doses. Although unproven by the data available in this study, the familial aggregation and pattern of distribution of sensitivity to streptomycin suggested autosomal dominant inheritance.

Adolescent↗