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Biomedical subjects

D L Rimoin

Publications and source records attributed to D L Rimoin.

At least 163 records · Page 9Linked to original sources
PubMed1982

Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia.

We report two sporadic cases with a previously undescribed skeletal dysplasia lethal in the neonatal period. The syndrome is characterized clinically by striking rhizomelic shortness of the limbs and radiographically by absence or hypoplasia of the humeri, hypoplastic vertebrae, absent fibulae and ossification in only the distal phalanges of the hands. Morphologic studies show hypocellular areas of growth plate cartilage containing occasional multinucleated giant cells.

Abnormalities, Multiple↗
PubMed1982

Spondylometepiphyseal dysplasia, Strudwick type.

The clinical and radiographic observations in eight patients, radiographs on an additional six patients, and morphologic observations on chondro-osseous tissue from two of these 14 patients form the basis for delineating an entity distinct from the heterogeneous group of skeletal dysplasia involving spine and tubular bones, the spondyloepiphyseal, and spondylometaphyseal dysplasias. Disproportionately short limbs and delayed epiphyseal maturation are present at birth, and the entity is radiographically indistinguishable from spondyloepiphyseal dysplasia (SED) congenita during infancy. The metaphyseal change that allows identification of the entity described here develops during early childhood, and radiographically is seen as "dappling," ie, the mottled appearance of alternating zones of osteosclerosis and osteopenia. Severe scoliosis and cord compression may be important clinical problems related to the spine changes in adulthood. We have identified one family with two affected sibs and normal parents, suggesting autosomal recessive inheritance and distinguishing the entity from SED congenita that has autosomal dominant inheritance.

Adult↗
PubMed1982

Genetic heterogeneity in common disease.

It is not apparent that diabetes mellitus and peptic ulcer disease are not single polygenic diseases, but are each genetically heterogeneous, consisting of numerous distinct entities. The delineation of genetic heterogeneity has important implications for genetic counseling, treatment, and prognosis, and is essential in determining the pathophysiology and etiology of a disorder. Unless each of the distinct component diseases of a symptom complex has been identified and separated, the basic pathophysiological abnormalities cannot be identified, and a common biochemical abnormality will not be found in all affected individuals. In approaching the genetics of any common disease disorder in man, heterogeneity must first be unmasked, and genetic and pathogenetic studies must be separately performed in each of the component, etiologically distinct disorders producing the aberrant phenotype.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1981

Close genetic linkage between diabetes mellitus and kidd blood group.

27 polymorphic genetic markers were analysed for possible linkage with insulin-dependent diabetes mellitus (IDDM). The data set contained 71 families with at least one affected member each. Under three different genetic models for IDDM, evidence was found for linkage between the disease and two distinct sets of marker loci: three markers on chromosome 6 (HLA, properdin factor B, and glyoxalase-1), and the Kidd blood group locus. The families apparently do not fall into two groups, one exhibiting linkage to the HLA complex and the other to the Kidd locus. Thus, two distinct disease-susceptibility loci may be involved in the inheritance of IDDM.

Blood Group Antigens↗
PubMed1981

The genetics of the glucose intolerance disorders.

Genetic heterogeneity, the concept that diabetes can have many different causes, was first suggested by the existence of rare genetic syndromes with diabetes, ethnic differences in clinical features and genetic heterogeneity of animal models. Genetic heterogeneity is now considered to be firmly established by family, twin, metabolic, immunologic and HLA disease association studies that separate idiopathic diabetes into insulin-dependent types (juvenile-onset type) and noninsulin-dependent types (maturity-onset type). Further heterogeneity is being demonstrated within each of these broad groups of disorders--within insulin-dependent diabetes using the HLA antigens and immunologic studies, and within noninsulin-dependent diabetes using such criteria as obesity, insulin response, age of onset and chlorpropamide-primed alcohol-induced flushing. This heterogeneity has major implications for the research and care of our diabetic patients since the precise etiology, risk of complications and genetic counseling are likely to vary among these different disorders that result in diabetes.

Animals↗
PubMed1981

Familial lymphedema praecox: Meige's disease.

Familial lymphedema should be classified in two categories depending on onset. Milroy's disease, or congenital hereditary lymphedema, is present from birth, painless, without tendency to ulcerate, and may have cholestasis or intestinal lymphangiectasia associated with it. Meige's disease, hereditary lymphedema praecox, is lymphedema with onset in the first or second decade, often presenting with inflammation, and may have a number of associated related anomalies including distichiasis, extradural cysts, vertebral anomalies, cerebrovascular malformation, yellow nails, and sensorineural hearing loss. Both types follow an autosomal dominant pattern. This paper presents a family of 39 persons in 5 generations with 13 affected persons having Meige's disease. The importance of recognizing this type of familial lymphedema is discussed.

Adult↗
PubMed1981

Genetic heterogeneity in diabetes mellitus and diabetic microangiopathy.

Diabetes mellitus is a heterogeneous group of disorders associated with glucose intolerance. It appears that the prevalence and severity of diabetic microangiopathy differs between the different diabetic syndromes, but the extent of this heterogeneity and the cause and degree of the angiopathic differences is still unknown. Since glucose intolerance can be produced by a large number of different etiologic factors and pathogenetic mechanisms, it is not inconceivable that diabetic microangiopathy could also be due to a number of different factors. Delineation of the extent of the genetic heterogeneity in diabetes, the relationship between the pathogenesis of the glucose intolerance and the microangiopathy, and the prevalence and severity of the microangiopathy in each of the diabetic syndromes will have profound implications on the prognosis and therapy of each individual diabetic patient.

Blood Glucose↗
PubMed1980

Congenital macular colobomas and short-limb skeletal dysplasia.

We report a previously undescribed association of severe short-limbed dwarfism and macular colobomas with histological changes of cartilage resembling to some extent those of diastrophic dysplasia. Chance occurrence of two rare disorders due to different causes is considered unlikely and the patient is presumed to have a syndrome of, as yet, unknown cause.

Bone and Bones↗
PubMed1980

Optometric screening in achondroplasia, diastrophic dysplasia, and spondyloepiphyseal dysplasia congenita.

Visual screening tests were done on 61 individuals with various types of genetic skeletal dysplasias to determine which, if any, refractive errors are associated with each type. In individuals with achondroplasia, refractive error distribution was approximately that expected from its distribution in the general population. However, there was a significantly higher than expected frequency of strabismus in achondroplasts. A tendency to myopia was noted in diastrophic dysplasia and in those individuals with spondyloepiphyseal dysplasia.

Achondroplasia↗