Biomedical subjects

J W Spranger

Publications and source records attributed to J W Spranger.

At least 37 records · Page 2Linked to original sources

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

Catabolic disorders of complex carbohydrates.

The various disorders caused by heritable defects in complex carbohydrate catabolism comprise two groups: (A) The mucopolysaccharidoses, six main and several subtypes are described. (B) The mucolipidoses (oligosaccharidoses), at least nine types being recognized. Whilst most of these are now well defined by clinical and biochemical studies, much of the sequence of events from the intrinsic metabolic error to their clinical features remains obscure. Most are transmitted as autosomal recessive conditions, a mode of inheritance often, as with these disorders, associated with enzymic deficiencies. All patients display the Hurler phenotype, but this, as also the characteristic bone changes, varies widely in severity both within and between the specified types of disease. The radiological abnormalities--dysostosis multiplex--indicate the broad disease complex and are rarely type-specific; diagnostic precision needing knowledge of both clinical and biochemical examinations. In several types mental development is normal and bone changes are mild, so permitting confusion with other forms of bone dysplasia or disease.

Bone Diseases, Developmental↗

PubMed1977

Metaphyseal chondrodysplasia.

Any review of the metaphyseal chondrodysplasias is complicated by their variety and mainly unknown pathogenesis. The more familiar types display considerable clinical and radiological diversity: even more so the rarer disorders which still require complete definition, but differences in their mode of inheritance make diagnostic precision mandatory. These dysplasias present in infancy or in childhood, when the patient, usually dwarfed, may be proportionate, so that some forms may be confused with rickets or other lesions. Mental retardation is unusual, but the skin, hair, nails and facies provide valuable diagnostic features. Radiological abnormalities mainly affect the metaphyses of the shortened limb bones, less often the skull, vertebrae, pelvis, ribs and extremities, and sometimes their distribution may indicate the specific type of dysplasia. In a further complex group multiple systems are involved, notably the pancreas, intestine and lympho-reticular, causing malabsorption and haematological or immunological disorders.

Adenosine Deaminase↗

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↗

PubMed1976

Chondrodysplasia punctata--rhizomelic form. Pathologic and radiologic studies of three infants.

Pathologic, ultrastructural and radiologic studies are described on 3 infants with the rhizomelic form of chondrodysplasia punctata. Radiologic criteria in the young infant include radiolucent coronal clefts dividing all or most of the thoracic and lumbar vertebral bodies, short humeri with flared metaphyses and punctate calcifications commonly present adjacent to the ossified ischial and pubic bones and less commonly in other locations. In late infancy and childhood the radiologic criteria include demineralization in all bones with slow maturation, flat vertebral bodies, short humeri and femora, metaphyseal flaring, especially in the distal humerus, proximal femur and proximal tibia, immature shape of pelvis, and disappearance of the punctate calcifications with advancing age. The histologic changes of the resting cartilage include areas of degenerating cartilage which had become partially calcified, cystic changes with severe disturbance of the maturation of the cartilage at the physial plate, and the formation of cancellous bone directly on resting cartilage. Ultrastructural changes are characterized by degeneration of chondrocytes, delicate collagenous fibrils without visible periodicity, and the presence of flocculent material within greatly distended endoplasmic reticulum.

Bone and Bones↗

PubMed1976

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of Zellweger: comparative pathology.

A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, persistent congenital hypotonia, hepatic lobular disarray, renal cortical cysts and pulmonary hypoplasia. Many had cardiovascular malformations, hepatomegaly, cerebral cortical gyral maldevelopment and pancreatic islet hyperplasia. Additional, less frequent findings are delineated. Results of iron content studies of hepatic and renal tissues are related to age of survival and possible development of fibrosis.

Abnormalities, Multiple↗

PubMed1976