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Biomedical subjects

T F Thurmon

Publications and source records attributed to T F Thurmon.

At least 37 records · Page 2Linked to original sources
PubMed1976

Deafness and vitiligo.

Seven cases of congenital deafness and an autosomal recessive pedigree pattern were observed in an inbred kindred. Three of the cases also had vitiligo, and there were 2 other cases of vitiligo in this kindred. The vitiligo also appeared to have an autosomal recessive inheritance pattern.

Deafness↗
PubMed1976

Tumoral calcinosis and Engelmann disease.

Four cases of Engelmann disease were observed in a dominant inheritance pattern in a family of St. Landry Mulattoes. In the youngest sibship, one of the cases also had tumoral calcinosis. Another sib had only tumoral calcinosis, though some findings suggested that this sib may also have had Engelmann disease. All 3 of the younger sibs had snow-capped teeth. It is suggested by this family that snow-capped teeth may be part of the syndrome of Engelmann disease.

Bone Diseases, Developmental↗
PubMed1975

Variability of polymorphic cellular enzymes in medical students with different serum lipid levels: a preliminary survey.

Groups of male Caucasian medical students who had, relative to their classmates, eitherhigh or low lipid levels were screened for electrophoretic variants of haptoglobin, transferrin, and 10 polymorphic erythrocyte enzymes. Members of both the "high" and "low" lipid groups were found to be polymorphic at 7 genetic loci, 6 of which were enzymatic. Consistently, at most polymorphic loci the high lipid groups had somewhat higher frequencies of nonpredominant phenotypes (patterns other than the phenotype reported to occur most frequently in U.S.A. Caucasian populations). A higher frequency of the less common nonpredominant phenotypes (reported Caucasian population frequency less than 0.200) in the high lipid groups was primarily responsible for the observed variations in the phenotypic distributions. Gene frequency distributions were correspondingly skewed. In 14 comparisons between the high and low lipid groups the least common allele of the 7 polymorphic series had a higher frequency in the high lipid group 9 times and in the low lipid group only once. Collectively, our preliminary observations suggest quantitative and qualitative genetic trends related to serum lipid levels that warrant more extensive investigation.

Alleles↗
PubMed1975

Familial Prader-Willi syndrome.

Five cases of Prader-Willi syndrome were found in an inbred south Louisiana family. Pedigree data strongly support autosomal recessive inheritance of the syndrome in this family.

Adolescent↗
PubMed1975

New syndromes of mental retardation.

During a survey of a selected group of residents of an institution for the mentally retarded, four previously undescribed syndromes were found. They were characterized as follows: cerebral maldevelopment, dwarfism and cataracts (autosomal recessive inheritance); cerebral maldevelopment, dwarfism and facial osteoproliferation (autosomal recessive inheritance); cerebral maldevelopment and colobomata (autosomal recessive inheritance); and cerebral maldevelopment and acrocephaly (X-linked recessive inheritance).

Abnormalities, Multiple↗
PubMed1975

Acrocephalosyndactyly and partial trisomy 6.

A partial trisomy of the long arm of chromosome 6 was found in an infant with acrocephalosyndactyly (not Apert acrocephalosyndactyly). The mother had a balanced translocation involving the long arms of chromosomes 6 and 10. Other reports of similar aberrations are reviewed.

Acrocephalosyndactylia↗