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OBJECTIVES This study determined the characteristics of fetal alcohol syndrome in a South African community, and methodology was designed for the multidisciplinary study of fetal alcohol syndrome in developing societies. METHODS An active case ascertainment, 2-tier methodology was used among 992 first-grade pupils. A case-control design, using measures of(More)
OBJECTIVES The prevalence and characteristics of fetal alcohol syndrome (FAS) and partial fetal alcohol syndrome (PFAS) were determined in a third primary school cohort in a community in South Africa (SA). METHODS An active case ascertainment, two-tier screening methodology, and the revised Institute of Medicine diagnostic criteria were employed among 818(More)
Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. The disorder is highly variable and appears to affect patients in a mosaic manner. This intrinsic variability has led to diagnostic confusion associated with a dearth of longitudinal data on the natural history of Proteus syndrome. To clarify some of these(More)
To better understand the pathogenetics of pseudoxanthoma elasticum (PXE), we performed a mutational analysis of ATP-binding cassette subfamily C member 6 (ABCC6) in 122 unrelated patients with PXE, the largest cohort of patients yet studied. Thirty-six mutations were characterized, and, among these, 28 were novel variants (for a total of 43 PXE mutations(More)
OBJECTIVE The aim of the study was to determine the prevalence and characteristics of fetal alcohol syndrome (FAS) in a second primary school cohort in a community in South Africa. METHOD Active case ascertainment, two-tier screening, and Institute of Medicine assessment methodology were employed among 857 first grade pupils, most born in 1993.(More)
OBJECTIVES We defined risk factors for fetal alcohol syndrome (FAS) in a region with the highest documented prevalence of FAS in the world. METHODS We compared mothers of 53 first-grade students with FAS (cases) with 116 randomly selected mothers of first-grade students without FAS (controls). RESULTS Differences between case and control mothers in our(More)
OBJECTIVE To assess alcohol use by pregnant women in three underprivileged areas of the Western Cape. DESIGN Data were collected from subjects, selected in a randomised manner, during a single, structured interview. SUBJECTS AND SETTING Interviews were conducted among pregnant women voluntarily attending selected antenatal clinics in the(More)
Data were obtained from three samples of women of childbearing age. One sample of women is from prenatal clinics serving Plains Indian women. The second sample is of women from the Plains whose children were referred to special diagnostic developmental clinics, as their children were believed to have developmental issues consistent with prenatal alcohol(More)
OBJECTIVE To describe the prevalence, characteristics and risk factors for fetal alcohol syndrome (FAS) and partial FAS among schoolgoing children in Grade 1 in Northern Cape Province, South Africa. DESIGN A cross-sectional study using a two-tiered method for ascertainment of FAS/partial FAS cases, comprising: screening of growth parameters, diagnostic(More)
BACKGROUND Pseudoxanthoma elasticum (PXE), an autosomal recessive disorder with considerable phenotypic variability, mainly affects the eyes, skin and cardiovascular system, characterised by dystrophic mineralization of connective tissues. It is caused by mutations in the ABCC6 (ATP binding cassette family C member 6) gene, which encodes MRP6 (multidrug(More)