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Biomedical subjects

J Spranger

Publications and source records attributed to J Spranger.

At least 127 records · Page 7Linked to original sources
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↗
PubMed1980

Congenital anomalies in children of epileptic mothers and fathers.

Children of epileptic mothers have a higher risk for major malformations. A similar increase of major malformations is observed in children of epileptic fathers suggesting that the major malformations are related to the parental disease rather than to the antiepileptic drug. No information was available if the pattern of minor acrofacial malformations known as the "hydantoin syndrome" occurs also in children of epileptic fathers. We studied 37 children of treated mothers and 22 children of treated fathers with epilepsy. No major malformations were observed. The typical acrofacial syndrome occurred only in children of epileptic mothers suggesting that this characteristic syndrome is drug-related. Major malformations and the syndrome of minor acrofacial anomalies seem to have a different etiology. Since the pattern of minor acrofacial anomalies occurs after exposure to anticonvulsants other than hydantoin the term "antiepileptica syndrome" should be used for this particular embryopathy.

Abnormalities, Drug-Induced↗
PubMed1979

[Treatment of osteogenesis imperfecta with (+)-catechin (author's transl)].

4 girls aged 4--12 years with various forms of osteogenesis imperfecta were treated with (+)-catechin for several months. Bone punch biopsies from the iliac crest were investigated by electron microscopy before and during treatment. The frequency of fractures decreased clinically. There were no radiographic changes in the bones and there were no side effects. Electron microsopy showed a dilated coarse endoplasmatic reticulum with infrequent ribosomes, thin collagen fibrils and decreased predominantly disseminated mineralisation before treatment. Under the influence of treatment electron microscopical aspects of the bone improved. The cisternae of the endoplasmatic reticulum were arranged parallel with densely packed ribosomes, collagen fibrils were wider and in closely packed bundles and mineralisation was clearly improved. The electron microscopic findings are evidence for a possibly beneficial influence of (+)-catechin in some cases of osteogenesis imperfecta.

Benzopyrans↗