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A rare form of spondylometaphyseal dysplasia-type A4
T Duetting1, A Schulze, J Troeger
1Department of Pediatric Radiology, Ruprecht-Karls University, Heidelberg, Germany.
American Journal of Medical Genetics
|June 24, 1998
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.