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Biomedical subjects

R L Kaufman

Publications and source records attributed to R L Kaufman.

At least 55 records · Page 3Linked to original sources
PubMed1975

Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.

An association of ocular colobomata and congenital heart disease was observed in seven patients. Two of these were maternal half sisters whose mother also had ocular colobomata. All the patients had normal karyotypes. There was a high incidence of other associated abnormalities involving the central nervous, skeletal, and urogenital systems. Discovery of an ocular coloboma should alert the clinician to search for other abnormalities.

Abnormalities, Multiple↗
PubMed1975

The Kniest syndrome.

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMed1975

Development and implementation of a pharmacy technician training program.

A nine-month on-the-job training program for hospital pharmacy technicians is described. The first three months of the program are devoted to didactic training and the remaining six months to acquiring practical experience. Candidates for the program are provided through state-sponsored public assistance or manpower training programs. A minimum of six individuals are needed to begin a program to ensure that during at least three complete it. Forth technicians have completed the program during the past six years, and eight are currently employed by the hospital. Thirteen others are known to be employed at other institutions or in health-related occupations.

Adolescent↗
PubMed1971

Basal cell nevus syndrome: normal responsiveness to parathyroid hormone.

The basal cell nevus syndrome is an autosomal dominant trait which includes among its features jaw cysts, basal cell carcinomas, ectopic calcification and skeletal anomalies. It had been previously reported that such persons have had "resistance" to parathyroid hormone. In the current study, six persons with this syndrome from two families had a normal response to parathyroid hormone as measured by changes in serum calcium and phosphate and urinary excretion of calcium, phosphate and cyclic 3',5'-adenosine monophosphate. These results do not support the previous reports of "resistance" to parathyroid hormone in this syndrome.

Adolescent↗
PubMed1971

An oculocerebrofacial syndrome.

A syndrome of mental retardation, microcephaly, a mongoloid slant to the palpebral fissures, microcornea, strabismus, myopia, optic atrophy, high-arched palate, preauricular skin tags and small mandible is described in four (including one set of twins) of seven sibs born to unaffected, nonconsanguineous parents of German ancestry. An autosomal recessive mode of inheritance seems most likely.

Adolescent↗
PubMed1971

The Dyggve-Melchior-Clausen syndrome.

An 18-year-old mentally retarded girl with short-trunked dwarfism is described as a case of the Dyggve-Melchior-Clausen syndrome. This disorder is characterized by distinctive skeletal radiographic changes, particularly a lacey appearance of the iliac crest. This syndrome appears to be inherited as an autosomal recessive trait. Reports of several cases with similar radiographic changes but without mental retardation suggest heterogeneity within this syndrome.

Adolescent↗