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Biomedical subjects

M Stoeckenius

Publications and source records attributed to M Stoeckenius.

16 recordsLinked to original sources
PubMed1981

Bilateral femoral dysgenesis with micrognathia, cleft palate, anomalies of the spine and pelvis, and foot deformities. Clinical and radiological findings.

Two girls afflicted with bilateral femoral hypoplasia, micrognathia, cleft palate, anomalies of the spine and pelvis, and foot deformities are reported. Based on 10 cases reported in the literature the following points are emphasized: 1. Femoral hypoplasia may be bilateral or unilateral. 2. Many patients show asymmetrical changes. 3. To our knowledge, the complete syndrome including a cleft palate has been reported only in females. 4. Femoral hypoplasia without a cleft palate may represent a different entity, of possibly autosomal dominant inheritance, or may occur in children of diabetic mothers.

Child, Preschool↗
PubMed1976

Prenatal diagnosis of mucolipidosis II (I-cell disease).

A pregnancy at risk for mucolipidosis II (I-cell disease) was monitored in which an affected fetus was predicted on the basis of the analyses of lysosomal hydrolases in amniotic fluid and cultured amniotic fluid cells, and by the demonstration of an excessive accumulation of [35S] sulfate-labeled glycosaminoglycans in cultured amniotic cells. This diagnosis was confirmed by performing enzyme assays and [35S] sulfate incorporation studies on material derived from the aborted fetus.

Amniotic Fluid↗
PubMed1975

The skull in metaphyseal chondrodysplasia type Jansen.

For some reasons skull findings in Jansen's Metaphyseal Dysplasia have been largely neglected. A survey of the seven known cases (three of them being primarily observed and described by two of the authors) disclose important and constant alterations, namely pronounced basilar thickening and sclerosis, prominent supraorbital and zygomatic arches, underdevelopment of the paranasal sinuses with sclerosis of the adjacent bone, and hypoplasia of the mandible. These alterations give rise to distinct and fairly specific features. The relationship to other craniotubular disorders, such as craniodiaphyseal dysplasia, craniometaphyseal dysplasia, and frontometaphyseal dysplasia is discussed.

Adolescent↗