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Biomedical subjects

G S Gericke

Publications and source records attributed to G S Gericke.

48 records · Page 3Linked to original sources
PubMed1980

The Langer-Giedion phenotype associated with a unique skeletal finding in a mentally retarded adolescent male. A case report.

A case of a mentally retarded male patient with associated physical abnormalities resembling the multiple exostoses-mental retardation syndrome (MEMR, Langer-Giedion or Ale-Calo syndrome) is reported. The patient represents one of the most severe examples of this condition; he also has a triphalangeal thumb with double distal phalanges, a feature not reported previously.

Adolescent↗
PubMed1978

Focal dermal hypoplasia (Goltz syndrome): case reports.

Two Cape Coloured children, both with physical stigmata of Goltz syndrome, are described. Accurate diagnosis of congenital defects in the newborn allows optimal planning of surgical treatment and more accurate prognosis and genetic counselling.

Abnormalities, Multiple↗
PubMed1977

Leucocyte ultrastructure and folate metabolism in Down's syndrome.

Electron microscopical and haematological investigation of peripheral blood has shown a higher percentage of leukaemia-like nuclear ultrastructural abnormalities in the leucocytes of 30 individuals with Down's syndrome (mean 6.3%) than in normal controls (mean less than 1%). Most of these aberrations consisted of nuclear membrane abnormalities. Red cell folate values were very low in the group with Down's syndrome. Although mean serum folate and vitamin B12 levels were normal in this group, these individuals displayed increasing macrocytosis and decreasing serum folate levels with age. The whole group with Down's syndrome showed an increased mean corpuscular volume (MCV). The percentage of ultrastructural abnormalities did not correlate with folate levels when they were analysed individually. The existence of nuclear membrane abnormalities and folate deficiency, both of which may be associated with increased chromosome breakage, may be partly responsible for the increased leukaemia risk in patients with Down's syndrome.

Adolescent↗
PubMed1977

Leukaemogenesis in Down's syndrome.

Due to the fixed karyotype and documented malignancy risk in patients with Down's syndrome, recently described aetiological factors can be assigned to their proper places in a conceptual framework for leukaemogenesis in these individuals. This is a more profitable approach than those in which various types of karyotypic patterns are matched to different malignancies. It seems that viruses may play a special role, but they need interaction with other factors, most of which are present in Down's syndrome. A unifying concept which may be helpful in establishing research priorities is presented.

Child↗
PubMed1977

Mucolipidosis III: two patients displaying genetic pleiotropism.

Two Cape Coloured siblings with typical features of Hurler's syndrome, but without mucopolysacchariduria or mucopolysaccharide accumulation in tissues, are presented. The clinical features, in conjunction with raised beta-D-galactosidase and alpha-L-fucosidase levels in fibroblast cultures from one of the patients, suggest the diagnosis of a mucolipidosis. Theories relating to the intracellular deficiency and extracellular excess of lysosomal enzymes in these conditions are reviewed. Phenotypical and cell culture differences between 2 siblings who display the same overall clinical syndrome, illustrate the genetic pleiotropism inherent in this group of diseases.

Adult↗
PubMed1975

Clinical and cytogenetic aspects of the 21 deletion syndrome.

The clinical, cytogenetic and dermatoglyphic findings in a patient with a ring chromosome 21 are presented. This anomaly acts as a deletion of chromosomal material and results in specific congenital defects. A comparison is made with 24 cases of deletions involving chromosome 21 described in the literature. Six of these have been studied by means of recently developed chromosome banding techniques. Cases presumably arise through somatic non-disjunction or chromosome breakage. When the chromosomes of both parents are normal the recurrence risk is negligible.

Chromosome Aberrations↗
PubMed1975

[Clinical characteristics and genetic identity of the basal cell nevus syndrome (Gorlin-Goltz syndrome)].

The clinical, genetic, radiological, dental and dermatological aspects of 3 patients with the autosomal dominant basal cell naevus syndrome are reported. An analysis of the phenotypic features of 72 cases described in the literature is presented and compared with a previous analysis. Ash leaf hypopigmentation similar to that found in tuberous sclerosis represents a unique finding in this syndrome. Other similarities to the phacomatoses are discussed. We were able to support a previous report that patients with the basal cell naevus syndrome have a normal end-organ response to parathormone stimulation, and that it is most probably not related to pseudohypoparathyroidism, as earlier reports suggested.

Adult↗