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Biomedical subjects

J Spranger

Publications and source records attributed to J Spranger.

At least 163 records · Page 9Linked to original sources
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↗
PubMed1979

Hypochondroplasia: clinical and radiological aspects in 39 cases.

A retrospective review of 39 cases of hypochondroplasia revealed consistent but variable degrees of clinical and radiological features sufficient to allow differentiation from other well-established metaphyseal chondrodysplasias. Macrocephaly was noted in approximately half the cases. This contradicts a finding of normocephaly in previous studies.

Achondroplasia↗
PubMed1978

Two peculiar types of enchondromatosis.

On the basis of 3 personal observations and of 6 cases from the literature, two peculiar types of enchondromatosis are delineated: 1. Enchondromatosis with generalized, irregular vertebral lesions, and 2. Generalized enchondromatosis with mild platyspondyly.

Bone and Bones↗
PubMed1978

Mucopolysaccharidosis II (Hunter disease) with corneal opacities. Report on two patients at the extremes of a wide clinical spectrum.

Clinically visible corneal opacities were observed in a patient with an extremely severe form of mucopolysaccharidosis II. In a second patient with an unusually mild form of mucopolysaccharidosis II, discrete corneal opacities were detected by slit-lamp examination. Thus clear corneae can no longer be regarded as a hallmark of mucopolysaccharidosis II.

Adult↗
PubMed1978

The phenotypic variability of diastrophic dysplasia.

To determine the relationship between so-called "diastrophic variant" and diastrophic dysplasia, four patients considered to have the variant condition were studied in detail and compared to 67 patients (including 17 sets of affected sibs) considered to have classical diastrophic dysplasia. Analysis of the combined clinical, radiographic, histologic, and genetic data indicates that there is wide variability in the phenotypic expression of diastrophic dysplasia, even within sibships, and that those individuals previously labeled as having "diastrophic variant" appear to have mild diastrophic dysplasia.

Adult↗