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Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis

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Summary

A male newborn with the typical Langer type of mesomelic dwarfism is presented. The finding of a variable degree of Madelung's deformity and mesomelic shortening in both parents and in the maternal family tends to support the hypothesis that this type of mesomelic dwarfism may be the clinical manifestation of a homozygous state for dyschondrosteosis.

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Authors and Affiliations

  1. Division of Human Genetics, Department of Human Biology, Minderbroedersstraat, 12, B-3000, Leuven, Belgium

    J. P. Fryns & H. Van Den Berghe

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  1. J. P. Fryns
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  2. H. Van Den Berghe
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Fryns, J.P., Van Den Berghe, H. Langer type of mesomelic dwarfism as the possible homozygous expression of dyschondrosteosis. Hum Genet 46, 21–27 (1979). https://doi.org/10.1007/BF00278898

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  • DOI: https://doi.org/10.1007/BF00278898

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