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Case Reports
. 1998 Jun 16;78(1):61-6.
doi: 10.1002/(sici)1096-8628(19980616)78:1<61::aid-ajmg13>3.0.co;2-m.

A rare form of spondylometaphyseal dysplasia-type A4

T Duetting  1 , A Schulze, J Troeger, J Spranger
Affiliations
Case Reports

A rare form of spondylometaphyseal dysplasia-type A4

T Duetting et al. Am J Med Genet. .

Abstract

We present 2 cases of a previously apparently unreported spondylo-metaphyseal dysplasia comprising dwarfism, severe metaphyseal changes, ovoid vertebrae and mild platyspondyly with anterior tonguing of the vertebral bodies. The inheritance may be autosomal recessive.

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