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Biomedical subjects

D Viljoen

Publications and source records attributed to D Viljoen.

At least 55 records · Page 3Linked to original sources
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

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↗
PubMed1987

Familial rhizomelic dysplasia: phenotypic variation or heterogeneity?

In a consanguineous kindred of mixed ancestry in Cape Town we observed a boy with severe shortness of stature and an unusual skeletal dysplasia with marked shortness of the humeri. A male one-half second cousin had gross abnormalities of the lower limbs, which were worst in the femora, but his skeleton was otherwise virtually normal. A brother and sister of this latter individual had been similarly affected and their parents were consanguineous. The question arises as to whether two similar but separate disorders are present in this family or whether the condition in these two persons represents extreme phenotypic variability of the same autosomal recessive entity.

Bone Diseases, Developmental↗
PubMed1987

Osteogenesis imperfecta type III: an ancient mutation in Africa?

In a survey of institutions for crippled persons in Zimbabwe, 58 patients with osteogenesis imperfecta (OI) were identified; 42 had the rare OI Type III. The Shona and Ndebele people, who comprise the major tribal groups in Zimbabwe, both had a similar and relatively high gene frequency for this disorder. Both tribes were derived from common progenitors, but until 150 years ago had been geographically separated for 2 millenia. Subsequently, they have remained culturally and socially distinct. The implications are that the mutation for OI III in Africa occurred at least 2,000 years ago.

Female↗
PubMed1987

New autosomal dominant radial ray hypoplasia syndrome.

Radial ray anomalies can occur as isolated defects [Temtamy and McKusick, 1978] or as components of genetic syndromes, which are delineated on the basis of the associated anomalies, inheritance, chromosome, or hematological abnormalities. Syndrome identification is important because of the prognostic implications of the particular hematologic, oncologic, and clinical complications specific for each condition. In some instances overlap and variable expression of the manifestations associated with the radial ray defect confuse nosological definition and genetic counselling. In this paper we describe a father and his 2 daughters, who manifested variable defects of the radial ray and concurrent choanal malformations and esotropia. This apparently autosomal dominant condition differs from other radial ray hypoplasia disorders with respect to the associated anomalies and the absence of any hematologic or chromosomal aberrations.

Abnormalities, Multiple↗
PubMed1987

Heterozygous manifestations of Langer mesomelic dysplasia.

The mesomelic dysplasias are a heterogeneous group of genetic disorders with predominant skeletal manifestations in the forearms and shanks. We have documented, over a thirteen-year period, the clinical and radiographic course of the condition in a boy with the Langer type of mesomelic dysplasia. It has been suggested that dyschondrosteosis or the Madelung deformity are the phenotypic manifestations of the gene which causes Langer mesomelic dysplasia in the homozygote. Several relatives on both sides of the family which we studied had malformations of their forearms, in keeping with this concept. However, these anomalies differed from those of dyschondrosteosis and the classical Madelung deformity; the exact syndromic status of the heterozygous phenotype remains unsettled.

Adolescent↗
PubMed1987

Ehlers-Danlos syndrome: yet another type?

A mother and her four children had gross generalized joint laxity, with multiple dislocations and subluxations, moderate skin hyperextensibility and mild connective tissue fragility. Their condition could be categorized in the Ehlers-Danlos syndrome Type III or the familial undifferentiated hypermobility group of disorders, but differed from these conditions by virtue of the severity of articular complications and the presence of wormian bones in the skulls. We consider that these patients have an undelineated connective tissue disorder; attempts at characterization at the molecular level are underway.

Adult↗
PubMed1987

A new hypospadias-mental retardation syndrome in three brothers.

Three brothers had a syndrome of hypospadias and mental retardation in association with microcephaly, craniofacial dysmorphism, joint laxity, and beaked nails. No other family members were affected, and this previously undelineated condition appears to be inherited in either an autosomal recessive or X-linked recessive mode.

Child↗
PubMed1985

Ectrodactyly in central Africa.

Autosomal dominant ectrodactyly has been identified in several families in remote areas of central Africa. Two groups from eastern Botswana and south-western Zimbabwe belong to the Talaunda tribe and have a common ancestral origin. Another family are members of the Wadoma tribe of north-eastern Zimbabwe. A total of 24 individuals may be affected. Tenuous historical evidence suggests that the Talaunda migrated from the eastern Zambezi region late in the last century and may have the same origins as the Wadoma tribe. On this basis it is likely that the affected people have the same faulty gene, which presumably arose by mutation in a common progenitor.

Adolescent↗
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↗
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↗