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

1 May 1991

journal article
case report
Published by Wiley in American Journal of Medical Genetics

Vol. 39 (2) , 170-172
https://doi.org/10.1002/ajmg.1320390211

Abstract

We report a 3½‐year‐old boy with a unique spondylometaphyseal dysplasia with predominantly mesomelic involvement. In addition, he had gross generalised joint laxity and dentinogenesis imperfecta.

Keywords

AUTOSOMAL RECESSIVE INHERITANCE
X‐LINKED RECESSIVE INHERITANCE
DOMINANT NEW MUTATION

This publication has 4 references indexed in Scilit:

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Clinical Genetics, 1984
Hypermobility of Joints
Published by Springer Nature ,1983
Spondylometepiphyseal dysplasia, strudwick type
American Journal of Medical Genetics, 1982
Autosomal Recessive. Spondylo‐epi‐metaphyseal dysplasia (Irapa type) in a Mexican family: Delineation of the syndrome
American Journal of Medical Genetics, 1980