Biomedical subjects
Publications and source records attributed to J Timmermans.
In this report two brothers with a severe form of Peters' anomaly, i.e., primary dysgenesis mesodermalis of the cornea, are described. The third-degree consanguinity of the parents is an additional argument for the autosomal recessive inheritance of this condition.
Two new cases of ring chromosome 15 are reported. A review of the nine cases described in the literature shows that ring chromosomes 15 are associated with a rather uniform phenotype characterized by slight to moderate mental retardation, marked pre- and postnatal growth failure, triangular face, and short hands and feet.
A 5 1/2-year-old girl, with a life-long history of recurrent staphylococcal infections and eczematous dermatitis had a defect in polymorphonuclear leucocyte chemotaxis and phagocytosis in autologous serum, a high serum IgE level, and a disturbed T cell function. Levamisole improved all the immunological abnormalities and there was a dramatic clinical improvement. Discontinuation of therapy with levamisole resulted in gradual deterioration.
A new type of mesomelic dwarfism in two male siblings and their father is presented. The responsible mutant gene manifests itself phenotypically as a severe dysostosis of the tibia with shortening, bowing and pseudarthrosis and as a mild dysostosis of the radius. The fibulae and ulnae are secondarily affected, but the rest of the skeleton is normal. The disorder has an autosomal dominant mode of inheritance. It can be differentiated rather easily from the already known forms of mesomelic dwarfism.
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