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Biomedical subjects

D L Rimoin

Publications and source records attributed to D L Rimoin.

At least 199 records · Page 11Linked to original sources
PubMed1978

Neonatal dwarfism.

We have not attempted to discuss the many forms of dwarfism with onset in childhood or adolescence, nor has it been possible to examine the many other causes of the small for gestational age infant, recently the subject of a review in this series. The evaluation of a child with a skeletal dysplasia requires a multidisciplinary approach utilizing clinical, genetic, radiographic, and morphologic findings. Because of the marked heterogeneity of this group of disorders, genetic and prognostic counseling should not be given until the physician is confident that he has made a definitive diagnosis.

Bone Diseases, Developmental↗
PubMed1978

Segregation of an insertional chromosome rearrangement in 3 generations.

The interstitial deletion of a segment of chromosome 13, 13q21 leads to 13q22, and its inversion and insertion into the long arm of chromosome 3 at breakpoint q12, was found to segregate in 3 generations of a family. Segregation of this 3 break rearrangement gave rise to individuals monosomic, trisomic, or balanced for the involved segment. Monosomy for 13q21 leads to 13q22 was associated with mental retardation, expressive aphasia, microcephaly, hand abnormalities, and short stature. Partially trisomic individuals had normal mentality, extremely high arched palate, and mild dysmorphic features. There was no evidence for retinoblastoma in the individuals examined. The balanced carriers were normal. Comparison of monosomic individuals with one previous report of a similar deletion reveals marked phenotypic similarities.

Adult↗
PubMed1978

Heterogeneity in diabetes mellitus--update, 1978. Evidence for further genetic heterogeneity within juvenile-onset insulin-dependent diabetes mellitus.

The concept that idiopathic diabetes mellitus is a genetically heterogeneous group of disorders has been established by twin and HLA studied that have permitted the separation of juvenile-onset and maturity-onset diabetes. The extent of the heterogeneity within the juvenile-onset and maturity-onset types is still in question. On the basis of recent immunologic and metabolic studies we believe that further heterogeneity can be demonstrated within the juvenile-onset diabetic group. We wish to hypothesize that there are at least two distinct forms of juvenile-onset diabetes, one associated with HLA B8 and the other with BW15. The B8 type is characterized by autoimmunity, microangiopathy, and a stronger association with the HLA D locus. The BW15 type is characterized by antibody response to exogenous insulin and a stronger association with the HLA C locus. Greater understanding of the pathogenesis, natural history, and genetics of diabetes mellitus will result as the full extent of genetic heterogeneity is elucidated.

Alleles↗
PubMed1977

Dominant inheritance of cerebral gigantism.

Cerebral gigantism is a syndrome consisting of characteristic dysmorphic features, accelerated growth in early childhood, and variable degrees of mental retardation. Its etiology and pathogenesis have not been defined. Three families are presented with multiple affected members. The vertical transmission of the trait and equal expression in both sexes in these families indicates a genetic etiology with a dominant pattern of inheritance, probably autosomal. As in previously reported cases, extensive endocrine evaluation failed to define the pathogenesis of the accelerated growth present in this disorder.

Adolescent↗
PubMed1977

Heterogeneity of nonlethal severe short-limbed dwarfism.

The Grebe syndrome is a nonlethal form of severe short-limbed dwarfism which was previously called "achondrogenesis-Brazilian or Grebe type". We have studied three patients with severe short-limbed dwarfism originally considered to have this syndrome. On re-evaluation of their clinical and radiographic features, only one of them had the typical features of the Grebe chondrodysplasia, whereas the other two appear to have clearly distinct, previously unreported skeletal dysplasias. These patients illustrate the heterogeneity that exists among the nonlethal forms of severe short-limbed dwarfism.

Adult↗
PubMed1977

Peptic ulcer disease--a heterogeneous group of disorders?

The familial aggregation of peptic ulcer disease has been well established, as has its association with such clear-cut genetic factors as blood group O and nonsecretor status. However, the genetics of this disorder, or group of disorders, is still in question. Polygenic inheritance is the prevailing hypothesis that has been proposed for peptic ulcer. This hypothesis was based primarily on the exclusion of a simple mode of inheritance for all ulcer disease. Genetic heterogeneity is an alternative hypothesis that can explain both the familial aggregation of peptic ulcer disease and the lack of a simple Mendelian pattern of inheritance. The evidence for genetic heterogeneity in peptic ulcer disease is reviewed, and studies are proposed to test this hypothesis.

ABO Blood-Group System↗
PubMed1977

The craniotubular bone modeling disorders: a neurosurgical introduction to rare skeletal dysplasias with cranial nerve compression.

The craniotubular bone modeling disorders are a group of skeletal dysplasias which involve predominantly the skull and long bones. The cranial involvement includes both external facial deformities and internal bony overgrowth about the cranial foramina and fissures. The latter commonly leads to cranial nerve compression, particularly of the optic nerve. Craniotomy and cranial nerve decompression can give substantial benefit to selected patients with these diseases but the severe bony abnormalities create technical problems which prevent surgery in some extreme cases. These disorders are genetically determined but the basic pathophysiologic mechanism has been delineated for only a few types and non-surgical treatment remains supportive.

Bone Diseases, Developmental↗
PubMed1977

Grebe chondrodysplasia and similar forms of severe short-limbed dwarfism.

We have studied three patients with severe short-limbed dwarfism, only one of whom had the typical features of Grebe disease, whereas the other two had clearly distinct previously unreported skeletal dysplasias. Unlike the patients with Grebe disease, the latter two patients had involvement of the spine and particularly short humeri. The malformations of the hands and lower limbs were different in each of the three patients.

Adult↗
PubMed1977

HLA-B5 associated with duodenal ulcer.

In a search for further genetic factors contributing to ulcer disease we undertook a study of the frequency of HLA antigens in patients with duodenal ulcer. Seventy-seven male patients (of two races) were typed for the HLA-A and-B loci. Thirteen of the 54 (24%) white males were found to have antigen B5 compared to 10% of controls. These results have a P value of 0.0016 which remains significant even when multiplied by the number of antigens tested (28). These results demonstrate a significant association between duodenal ulcer and HLA antigen B5 in white males, with a relative risk of 2.9, greater than that associated with the combination of blood group O and nonsecretor status.

ABO Blood-Group System↗