title: Spondyloepiphyseal dysplasia of Maroteaux.
abstract: 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.
authors.affiliation: Hôpital des Enfants Malades, Paris, France.
authors.forename: A N
authors.initials: AN
authors.lastname: Doman
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: E D
authors.initials: ED
authors.lastname: Lyne
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000145:classification* / Q000000981:diagnostic imaging / Q000235:genetics / Q000378:metabolism; D011859:Radiography