Search Results - "Viljoen, D L"

Fetal alcohol spectrum disorders: Prevalence rates in South Africa by Olivier, L, Curfs, L M G, Viljoen, D L

“…Fetal alcohol spectrum disorder (FASD) is an under-diagnosed condition in South Africa (SA). Fetal alcohol syndrome and FASD community prevalence studies were…”
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Alcohol dehydrogenase-22 allele is associated with decreased prevalence of fetal alcohol syndrome in the mixed-ancestry population of the Western Cape Province, South Africa by VILJOEN, D. L, CARR, L. G, FOROUD, T. M, BROOKE, L, RAMSAY, M, LI, T. K

“…Fetal alcohol syndrome (FAS) is particularly common among the mixed-ancestry population of the Western Cape Province of South Africa and occurs at a frequency…”
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Eye feature extraction for diagnosing the facial phenotype associated with fetal alcohol syndrome by DOUGLAS, T. S, MARTINEZ, F, MEINTJES, E. M, VAUGHAN, C. L, VILJOEN, D. L

“…Victims of fetal alcohol syndrome (FAS) exhibit a unique facial phenotype that is emphasised in diagnosis. Among the characteristic facial features, several…”
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Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation by Biesecker, Leslie G., Happle, Rudolf, Mulliken, John B., Weksberg, Rosanna, Graham Jr, John M., Viljoen, Denis L., Cohen Jr, M. Michael

“…Proteus syndrome is a complex disorder comprising malformations and overgrowth of multiple tissues. The disorder is highly variable and appears to affect…”
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Deletion of chromosome 13 in Moebius syndrome by Slee, J J, Smart, R D, Viljoen, D L

“…A girl aged 2 1/2 years with Moebius syndrome was found to have a deletion of band q12.2 in chromosome 13 (46,XX,del(13)(q12.2]. This is the second report…”
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Fetal Alcohol Syndrome: An International Perspective by Warren, Kenneth R., Calhoun, Faye J., May, Philip A., Viljoen, Denis L., Li, Ting-Kai, Tanaka, Harumi, Marinicheva, Galina S., Robinson, Luther K., Mundle, Goetz

“…This article represents the proceedings of a workshop at the 2000 ISBRA Meeting in Yokohama, Japan. The chairs were Kenneth R. Warren and Faye J. Calhoun. The…”
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Klippel-Trenaunay-Weber syndrome (angio-osteohypertrophy syndrome) by Viljoen, D L

“…In 1900, Klippel and Trenaunay first described the classic triad of cutaneous haemangiomata, hemihypertrophy, and varicosities. Subsequently, Weber reported…”
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Prader-Willi syndrome in South African patients : Clinical and molecular diagnosis by CHRISTIANSON, A. L, VILJOEN, D. L, WINSHIP, W. S, DE LA REY, M, VAN RENSBURG, E. J

“…To assess clinically South African patients with the putative diagnosis of Prader-Willi syndrome (PWS) and confirm this diagnosis by DNA/molecular analysis…”
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Prenatal diagnosis in autosomal dominant Beckwith-Wiedemann syndrome by Viljoen, D L, Jaquire, Z, Woods, D L

“…A 20-year-old woman with Beckwith-Wiedemann syndrome (BWS) was ultrasonographically appraised at intervals during her pregnancy. Unequivocal evidence for a…”
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The obstetric and gynaecological implications of pseudoxanthoma elasticum by Viljoen, D L, Beatty, S, Beighton, P

“…The obstetric aspects of 54 pregnancies in 20 women with pseudoxanthoma elasticum (PXE) have been reviewed. Forty live births were delivered vaginally, three…”
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Microcephaly-cardiomyopathy: a new autosomal recessive phenotype? by Winship, I M, Viljoen, D L, Leary, P M, De Moor, M M

“…A distinctive phenotype of severe microcephaly and self-limiting dilated cardiomyopathy has been observed in two sibs suggesting autosomal recessive…”
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A PILOT STUDY OF ALCOHOL EXPOSURE AND PHARMACOKINETICS IN WOMEN WITH OR WITHOUT CHILDREN WITH FETAL ALCOHOL SYNDROME by KHAOLE, NATHANIEL C. O., RAMCHANDANI, VIJAY A., VILJOEN, DENIS L., LI, TING-KAI

“…Aims: To determine the alcohol exposure and pharmacokinetics of alcohol in a group of women who had given birth to children with FAS, compared with women who…”
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The prevalence and prevention of neural tube defects in Cape Town by Viljoen, D L, Buccimazza, S, Dunne, T, Molteno, C

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Familial aggregation of streptomycin ototoxicity: autosomal dominant inheritance? by Viljoen, D L, Sellars, S L, Beighton, P

“…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…”
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Heterogeneity of pseudoxanthoma elasticum: delineation of a new form? by Viljoen, D L, Pope, F M, Beighton, P

“…Sixty-four patients with pseudoxanthoma elasticum (PXE) were investigated in a nationwide study within South Africa and Zimbabwe. Thirty-nine individuals…”
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Founder effect on 20 afrikaner kindreds with pseudoxanthoma elasticum by TORRINGTON, M, VILJOEN, D. L

“…The pedigrees of 20 families with pseudoxanthoma elasticum (PXE) were investigated. The analyses involved 13 generations up to and including the initial…”
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The proteus syndrome: the magnetic resonance and radiological features by CREMIN, B. J, VILJOEN, D. L, WYNCHANK, S, BEIGHTON, P

“…The Proteus syndrome is a recently delineated group of skeletal and mesodermal malformations. Its characteristics include hemihypertrophy and…”
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The epidemiology of conjoined twinning in Southern Africa by Viljoen, D L, Nelson, M M, Beighton, P

“…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…”
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Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa by LE SAUX, Olivier, BECK, Konstanze, VILJOEN, Denis L, BOYD, Charles D, SACHSINGER, Christine, TREIBER, Carina, GÖRING, Harald H. H, CURRY, Katie, JOHNSON, Eric W, BERCOVITCH, Lionel, MARAIS, Anna-Susan, TERRY, Sharon F

“…Pseudoxanthoma elasticum (PXE) is a heritable elastic tissue disorder recently shown to be attributable to mutations in the ABCC6 ( MRP6) gene. Whereas PXE has…”
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Childhood deafness in the Indian population of Natal by Beighton, P., Sellars, S.L., Goldblatt, J., Viljoen, D.L. & Beighton, G.

“…A study of 212 Indian children at the V.A. Naik School for Deaf was undertaken to determine the aetiology of their deafness…”
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