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Biomedical subjects

J Spranger

Publications and source records attributed to J Spranger.

At least 145 records · Page 8Linked to original sources
PubMed1982

Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia.

In 1972, Wolcott and Rallison described three siblings with a combination of infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. We have observed a brother and sister with the same disorder. The chondro-osseous lesions are those of a spondylo-epiphyseal dysplasia. The diabetes mellitus is relatively mild. Histologic and electron microscopic studies of chondro-osseous tissue show findings similar to those in other epiphyseal and spondylo-epiphyseal dysplasias. In addition, however, atypical collagen-like fibres are found inside and outside chondrocytes. Collagen production seems to be normal in cultured fibroblasts. From the available data it appears that the association of characteristic chondro-osseous and endocrine abnormalities is non-random and that the lesions are independent manifestations of a pleiotropic gene. We propose to call this disorder the Wolcott-Rallison Syndrome.

Biopsy↗
PubMed1982

Osteogenesis imperfecta congenita. Features and prognosis of a heterogenous condition.

The clinical and radiographic features of 47 cases of neonatally manifest osteogenesis imperfecta were analyzed. A scoring system was devised to code the degree of skeletal changes. A score of 2.7 and more carried a prospective mortality of 88%. Scores of 2.6 and less were associated with a survival rate of 90%. The prognosis was particularly favourable in a subgroup of patients characterized by marked bowing of the lower extremities, mild involvement of the rest of the skeleton and white sclerae. Neonates with these features tended to have a good long-term prognosis, with few additional fractures and partial or total spontaneous resolution of the limb deformity. The study confirmed the genetic and prognostic heterogeneity of the disorder, which comprises several autosomal dominant and recessive entities.

Bone and Bones↗
PubMed1982

Osteogenesis imperfecta 1982.

Osteogenesis imperfecta is a highly heterogeneous disorder comprising at least four major clinically discernible conditions. Clinical and genetic observations suggest further heterogeneity. Recent advances in collagen biochemistry suggest heterogeneity of clinically identical conditions and permit a tentative clinical-biochemical classification of osteogenesis imperfecta.

Bone and Bones↗
PubMed1981

Aspartylglycosaminuria in an Italian family: clinical and biochemical characteristics.

Two members of a consanguineous Italian family are described with symptoms of aspartylglycosaminuria. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multi-vacuolated lymphocytes. Enzyme studies in leukocytes showed an absence of aspartylglucosaminidase activity. Urine analysis demonstrated abnormal oligosacchariduria. Angiokeratoma corporis diffusum was observed in one patient. The disease is seen as not being limited to Scandinavia or to patients of Scandinavian descent.

Acetylglucosamine↗
PubMed1981

Diastrophic dysplasia: the death of a variant.

Diastrophic dysplasia is a distinct autosomal recessive disorder originally described in 1960. Since that time, a number of patients with similar but less severe involvement have been diagnosed as having a "diastrophic variant" disorder. This study reviews the radiological features of classic diastrophic dysplasia and compares them with the radiological findings in 26 patients with the diastrophic variant disorder. It is concluded that there is a wide variability in the phenotypic expression of diastrophic dysplasia even within sibships, and that cases of diastrophic variant disorder are actually mild forms of diastrophic dysplasia.

Adolescent↗
PubMed1981

Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family.

Two members of a consanguineous Italian family are described with the symptoms of aspartylglycosaminuria. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multivacuolated lymphocytes. Enzyme studies in leucocytes and cultured fibroblasts showed an absence of aspartylglucosaminidase activity. Urinary analysis demonstrated abnormal oligosacchariduria and aspartylglycosamine excretion. Angiokeratoma corporis diffusum was observed in one patient.

Abnormalities, Multiple↗
PubMed1980

Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases.

Phenotype analysis of 13 patients with congenital bowing of long bones and otherwise undiagnosable conditions allowed sorting into three major groups. Patients in group 1 had normal bone texture; bowing was confined to the femora, the long bones were relatively thin, there were no epiphyseal or metaphyseal abnormalities, and associated malformations or CNS abnormalities were common. Patients in group 2 had osteopenia; bowing was more generalized, the long bones were relatively thick, there were metaphyseal ossification abnormalities. Two brothers belonged to a third group with normal bone texture, relatively thick bones, bowing of the upper and lower limbs, and metaphyseal abnormalities. The subdivision of patients with congenital bowing of the long bones in these groups may be biologically significant. The occurrence of malformations only in group 1 is remarkable. Osteopenia, as found in patients of group 2, may be an important pathogenetic factor not present in patients of groups 1 and 3. Known causes of congenital bowing of long bones are tabulated.

Bone Diseases, Developmental↗
PubMed1980

Urinary oligosaccharide screening in patients with beta-galactosidase deficiency.

Following ion-exchange chromatography and subsequent thin-layer chromatography, 3 peculiar oligosaccharide excretion patterns were distinguished in 3 patients with beta-galactosidase deficiency. Each patient differed clinically and it is proposed that this method may be of use in characterizing various forms of beta-galactosidase deficiency.

Child↗