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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1982 Jun;19(3):234–236. doi: 10.1136/jmg.19.3.234

An adult female with spondyloepiphyseal dysplasia tarda

J M Connor 1,*, D A P Evans 1, I B Sardharwalla 1,
PMCID: PMC1048876  PMID: 6809945

Abstract

We report a sporadic adult female with a distinctive variety of spondyloepiphyseal dysplasia tarda characterised by universal platyspondyly, short metacarpals, short metatarsals, genu valgum, mild thoracic kyphoscoliosis, and severe generalised epiphyseal distortion with premature osteoarthrosis.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Spranger J., Langer L. O. Spondyloepiphyseal dysplasia. Birth Defects Orig Artic Ser. 1974;10(9):19–61. [PubMed] [Google Scholar]

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