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Biomedical subjects

J Spranger

Publications and source records attributed to J Spranger.

At least 109 records · Page 6Linked to original sources
PubMed1985

N-Acetylneuraminic acid storage disease.

Increased amounts of free sialic acid were found in body fluids, leukocytes, cultured fibroblasts, and liver tissue of a four-year-old boy with mental retardation, ataxia, and clinical and radiologic findings of a mild mucopolysaccharidosis. A diagnosis of Salla disease was made though in contrast to earlier reports, recurrent upper respiratory infections and hepatosplenomegaly were present already in infancy, and skeletal abnormalities of dysostosis multiplex were found in early childhood. Free sialic acid in the urine was identified as N-acetylneuraminic acid by 1H-NMR spectroscopy. Sialidase activities were normal. Increased amounts of bound sialic acid were found in liver and cultured fibroblasts and were attributed to an intracellular inhibition of sialyloligosaccharide-degrading neuraminidase by excessive amounts of free neuraminic acid. The molecular basis of N-acetylneuraminic acid storage disease is unknown but may be related to a defective transport mechanism preventing neuraminic acid from leaving the lysosomal compartment.

Cells, Cultured↗
PubMed1985

Pattern recognition in bone dysplasias.

Genetically different bone dysplasias may manifest themselves in similar patterns of skeletal abnormalities. It is proposed to group these similar dysplasias in 'families' for two reasons: 1 The knowledge of developmental patterns shared by different genetic disorders cautions the diagnostician and encourages a two-step procedure: a) provisional recognition of a pattern and b) more careful analysis of the pattern to reach a final, specific diagnosis. 2 Families of bone dysplasias may be the result of similar pathogenetic mechanisms. Once the mechanism is discovered in one member of the family, a search for similar mechanisms in others may be rewarding. An example of such a pattern is dysostosis multiplex. It is found in a family of disorders caused by defects of complex carbohydrate degradation. The present study delineates four more patterns and their families: the achondroplasia pattern, spondyloepiphyseal dysplasia congenita pattern, the Larsen/OPD pattern and the Stickler/Kniest pattern.

Achondroplasia↗
PubMed1985

[Connatal varicella embryo-fetopathy].

Connatal varicella embryo-fetopathy is rare. A newborn is described with severe cutaneous lesions, contractures, and hypoplasia of limbs following maternal varicella at the 13th week of pregnancy. Persisting low CF- and ELISA IgG-antibodies up to the age of 18 months give evidence for a prenatal varicella infection. Varicella contact during pregnancy requires rapid serodiagnosis of the immune status; if the women are seronegative, the application of zoster-hyperimmunoglobulin is recommended.

Chickenpox↗
PubMed1984

Geleophysic dysplasia.

On the basis of three affected sibs and one isolated case from the literature geleophysic dysplasia is defined as an acrofacial dysplasia with a peculiar, good-natured facial appearance, short hands and feet due to short, plump tubular bones, small stature, and progressive valvular cardiac disease. It seems to be a hereditary disorder of glycoprotein metabolism with autosomal recessive transmission.

Abnormalities, Multiple↗
PubMed1984

Acrofacial dysplasia resembling geleophysic dysplasia.

We report on a 12-year-old girl with acrofacial dysplasia, growth retardation, joint contractures, mitral valve incompetence and focal hepatic storage of material reacting histochemically as glycoprotein. The patient's phenotype resembles that of patients with geleophysic dysplasia but differs with respect to facial appearance, milder changes of hand bones and normal capital femoral epiphyses. It is undecided if her disorder is part of a wider phenotypic spectrum of geleophysic dysplasia or a different entity.

Abnormalities, Multiple↗
PubMed1984

Weyers acrodental dysostosis in a family.

A four generation family with postaxial polydactyly of hands and feet and dental anomalies is reported. Lower and upper incisors were abnormal in shape and number. Additional findings were prominent ear anthelices, hypoplastic and dysplastic nails and mild shortness of stature. Inheritance was dominant with variable expression. It is proposed that the family presents the syndrome of acrofacial dysostosis described by Weyers in 1952. To differentiate it from other acrofacial dysostoses, we suggest naming the condition acrodental dysostosis.

Abnormalities, Multiple↗
PubMed1983

Skeletal complications in osteogenesis imperfecta. A review of 153 South African patients.

Osteogenesis imperfecta (OI) is one of the most important inherited skeletal dysplasias. Clinical, radiographic and genetic investigations have been undertaken in a series of 153 South African patients from 84 separate families. A further 60 relatives in whom a definite diagnosis could be made were not available for examination. Seventy-nine patients from 39 families had type I OI (mild skeletal fragility, blue sclerae, autosomal dominant inheritance). The orthopaedic complications were mild and stature was relatively normal. Only 26 patients had experienced more than 10 fractures. Trunk shortening, often with mild kyphoscoliosis, was present in 11 patients. One girl was paraplegic, but none of the other patients had evidence of spinal cord compression. Persistent backache was troublesome in 4 cases. Two of the patients were chair-bound and 9 used crutches or wore calipers. Sixteen patients (sporadic cases) had type II OI (lethal in the perinatal period, autosomal recessive inheritance). The orthopaedic importance of this form of OI lies in its differentiation from other types for the purposes of prognostication and planning of long-term management. Twenty-one patients from 14 families had type III OI (severe fracturing and deformity, white sclerae, autosomal recessive inheritance). Orthopaedic complications predominated. Although only 6 of the 21 patients were adults, 16 were dwarfed, 14 had experienced more than 20 fractures and 19 had significant limb bowing. Seven were chair-bound and 9 walked with crutches or calipers.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1983

Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis.

Five patients are described with a hereditary arthropathy affecting major and minor joints. The main features of this progressive connective tissue disorder are restricted joint mobility, osseous swelling of the interphalangeal and other joints, and platyspondyly. The condition is commonly misdiagnosed as "chronic juvenile polyarthritis with Scheuermann disease". It differs from the rheumatoid-factor-negative polyarticular form of rheumatoid arthritis and other rheumatoid spondylarthropathies by the absence of arthritic and other inflammatory changes, radiographically by the absence of destructive and the presence of dysplastic bone changes. The disorder does not seem to respond to the usual forms of antirheumatoid treatment. Histological studies showed a peculiar, nest-like clustering of chondrocytes in the resting and growth cartilage suggesting that pathogenetically this is a primary disorder of the articular cartilage.

Adolescent↗
PubMed1982

Atelosteogenesis.

The name atelosteogenesis is proposed for a lethal chondrodysplasia characterized by deficient ossification of various bones, notably the humerus, femur, thoracic spine, and hand bones. Clinically, the patients have micromelic dwarfism with incurvated legs, club feet, often dislocation of the elbows, and, rarely, a cleft palate. The most characteristic radiographic signs are incomplete ossification of the vertebral bodies with coronal clefts of the lumbar and hypoplasia of the upper thoracic vertebral bodies, a distal hypoplasia and club shape of the humerus and the femur, and the lack of ossification of single phalanges and metacarpals in most patients. Histologically, there are clusters of chondrocytes surrounded by fibrous capsules and, more frequently, degeneration zones containing degenerated chondrocytes and copious amounts of metachromatic material in the epiphyses and the basal zone of the growth plate.

Abnormalities, Multiple↗
PubMed1982

Wormian bones in osteogenesis imperfecta and other disorders.

When are Wormian bones significant is not an easy question to answer, but its relevance is important in relation to bone dysplasias such as osteogenesis imperfecta. Recognition will differ with age of patient, radiographic objectivity, and personal subjectivity. In order to attempt an answer, the skull radiographs of 81 cases of osteogenesis imperfecta of varying ages were examined for the presence of Wormian bones. These were compared against the incidence of Wormian bones in 500 skull radiographs of normal children. Significant Wormian bones as against normal developmental variants were considered to be those more than 10 in number, measuring greater than 6 mm by 4 mm, and arranged in a general mosaic pattern. They were found in all the cases of osteogenesis imperfecta but not in the normal skulls. The occurrence of significant Wormian bones in other bone dysplasias from our material and that of the literature was recorded. Other incidental findings in the skulls of the cases of osteogenesis imperfecta were also appraised.

Adult↗
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↗