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Biomedical subjects

D L Rimoin

Publications and source records attributed to D L Rimoin.

At least 217 records · Page 12Linked to original sources
PubMed1976

The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency.

Three children, two of them siblings, with severe combined immunodeficiency and adenosine deaminase deficiency died within the first six months of life from the complications of acute bacterial infections. Subtle radiographic abnormalities were seen at the costochondral junctions, at the apophysis of the iliac bones, and in the vertebral bodies. At autopsy, the thymus showed evidence of early differentiation and, in one instance, aborted Hassall's corpuscles. Histologic study of the bone disclosed lack of organized cartilage columnar formation, large lacuni containing hypertrophied cells, and lack of trabecular formation with uninterrupted areas of calcified cartilage. These changes are distinctly different from those observed in the metaphyseal chondrodysplasias or in other chondrodystrophies.

Adenosine Deaminase↗
PubMed1976

Psychiatric aspects of dwarfism.

Sixteen adult dwarfs - 11 with achondroplasia and 5 with hypopituitarism - were studied by means of psychiatric interviews and psychological tests. There were no significant differences between the two groups; in general, the subjects had achieved a satisfactory life adjustment despite the stress of having bodies uniquely different from those of the general population. They had secure identities as "little people" and successfully used coping mechanisms such as a sense of humor and a pleasant interpersonal style. Male dwarfs tended to experience more emotional distress than female dwarfs.

Achondroplasia↗
PubMed1976

Hereditary forms of growth hormone deficiency and resistance.

Pituitary dwarfism is a genetically heterogeneous group of disorders associated with a variety of pathogenetic mechanisms which may involve any level of the hypothalamic-pituitary-somatomedin-peripheral tissue axis. Developmental defects of the pituitary, such as congenital absence of the pituitary, and developmental defects of the hypothalamus, such as anencephaly and holoprosencephaly, have been described. Degeneration of the hypothalamus and pituitary, as in histiocytosis X, may also result in pituitary dwarfism. In "idiopathic" forms of pituitary dwarfism, defects limited to either the hypothalamus or pituitary have been suggested by releasing hormone stimulation studies and it is quite likely that specific defects of the hypothalamus, and pituitary, as well as defects in releasing hormonal synthesis and secretion and growth hormone synthesis and secretion all exist. In Laron dwarfism the basic defect appears to lie in the ability to generate somatomedin, in the Pygmy the defect appears to involve peripheral unresponsiveness to somatomedin. Further pathologic studies of the hypothalamus and pituitary in pituitary dwarfism; analysis of growth hormone and somatomedin cellular receptors; and elucidation of the structure of growth hormone releasing factor and techniques for its synthesis and assay should allow for the delineation of the specific pathogenetic mechanism in each of these syndromes.

Abnormalities, Multiple↗
PubMed1976

Heterogeneity in the campomelic syndromes: long and short bone varieties.

There appears to be definite heterogeneity within the campomelic syndromes. We are broadly classifying these into the classic or long bone campomelic syndromes and 2 distinct short bone varieties designated as the normocephalic short-boned and craniosynostotic short-boned types, respectively (Table 1).

Dwarfism↗
PubMed1975

The Kniest syndrome.

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Abnormalities, Multiple↗
PubMed1975

Human X-autosome translocations: differential inactivation of the X chromosome in a kindred with an X-9 translocation.

A kindred with an X-autosome translocation and differential inactivation of the X chromosome is described. The phenotypically normal mother has a reciprocal translocation [46,X,rcp(X;9) (q11;q32)] while the daughter's karyotype is unbalanced [46,X,--X,+der(9),rcp(X;9) (q11;q32)mat], indicating adjacent-two type of segregation in the mother. In the mother's cells the normal X is late replicating, while in the daughter's cells almost the entire der(9) is late replicating, indicating the presence of autosomal inactivation. The daughter's abnormal phenotype can be explained by her sex chromosomal complement and the absence of effective trisomy 9. At this stage there is no simple explanation to account for all types of inactivation patterns encountered in the 14 balanced and 15 unbalanced cases of X-autosome translocations reported to date. Selection of X inactivation is not an inherent characteristic of the X chromosome per se, and it is not dependent on the direction of chromosomal exchange, as was suggested previously. Correlation of the phenotypic and cytogenetic features of these patients suggests a pattern of X and autosomal inactivation consistent with the least amount of genotypic and phenotypic imbalance in most cases. The data are most consistent with random X inactivation followed by selection of the most viable cell line.

Adolescent↗