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

1 October 1984

journal article
research article
Published by Wiley in Clinical Genetics

Vol. 26 (4) , 308-317
https://doi.org/10.1111/j.1399-0004.1984.tb01065.x

Abstract

Spondylo-epi-metaphyseal dysplasia with joint laxity (SEMDJL) is characterized by severe dwarfism, articular hypermobility and progressive spinal malalignment. The clinical manifestations of 18 affected persons in 13 families of the Afrikans-speaking community of South Africa were analyzed; survival into adulthood is unusual. SEMDJL is inherited as an autosomal recessive trait.

Keywords

AUTOSOMAL RECESSIVE INHERITANCE
DWARFISM
EPI‐METAPHYSEAL DYSPLASIA
HYPERMOBILITY
JOINT LAXITY
KYPHOSCOLIOSIS
SKELETAL DYSPLASIA
SPINAL MALALIGNMENT

This publication has 1 reference indexed in Scilit:

Spondylo-Epi-Metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis
Skeletal Radiology, 1980