The Journal of Bone and Joint Surgery, Vol 72, Issue 9 1364-1369, Copyright © 1990 by Journal of Bone and Joint Surgery, Inc
Spondyloepiphyseal dysplasia of Maroteaux
AN Doman, P Maroteaux and ED Lyne
Hopital des Enfants Malades, Paris, France.
The cases of four patients who had an unusual clinical entity of
disproportionately short stature, referred to as spondyloepiphyseal
dysplasia of Maroteaux, are described. In patients who have this syndrome,
the abnormalities are confined to the musculoskeletal system. The patients
do not have corneal opacities or increased excretion of keratosulphate. The
mode of transmission appears to be autosomal dominant. Platyspondylysis is
present but there are no anterior tongue-like deformities of the vertebral
bodies. Because of the presence of spondyloepiphyseal dysplasia and normal
intelligence, and the lack of abnormalities at birth, this entity seems to
mimic Morquio syndrome. However, unlike Morquio syndrome, the disorder
involves no biochemical abnormalities. Thus, the entity may be classified
as new.