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A rare form of spondylometaphyseal dysplasia-type A4

✍ Scribed by Duetting, T.; Schulze, A.; Troeger, J.; Spranger, J.

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
29 KB
Volume
78
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980616)78:1<61::aid-ajmg13>3.0.co;2-m

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✦ Synopsis

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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