Concepedia

Unique dwarfing, spondylometaphyseal skeletal dysplasia, with joint laxity and dentinogenesis imperfecta

Jack Goldblatt, Paul G. Carman, Paul Sprague

American Journal of Medical Genetics · 1991 · 39 citations · 6 references

DOI

Concepts

Abstract

We report a 3 1/2-year-old boy with a unique spondylometaphyseal dysplasia with predominantly mesomelic involvement. In addition, he had gross generalised joint laxity and dentinogenesis imperfecta.

References

6

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Inherited Disorders of the Skeleton

I.D. Young · Journal of Medical Genetics · 1989 · 54 citations · Full text

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Spondylometepiphyseal dysplasia, strudwick type

Carol E. Anderson, David Sillence, Ralph S. Lachman et al. · American Journal of Medical Genetics · 1982 · 52 citations

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The manifestations and natural history of spondylo‐epi‐metaphyseal dysplasia with joint laxity

Peter Beighton, George S. Gericke, K Kozłowski et al. · Clinical Genetics · 1984 · 43 citations

, , +16