[Heterogeneity of formes frustes of Morquio's disease].
Two children presenting with a mild form of Morquio's syndrome are reported. Clinically, there was a characteristic brevity of the trunk and slit lamp examination showed discrete corneal opacities. On X-ray films, generalized plastyspondylia was moderate but it was associated with hypoplasia of the odontoid process. Acetabula were enlarged with coxa valga; obliquity of inferior radio-cubital extremity was associated with a sharp pattern of the proximal end of metacarpi. Epiphyseal cartilage chondrocytes also looked like those of Morquio's syndrome: large cells containing numerous vacuoles, limited by a single smooth membrane. On the other hand, no keratosulfate was found in urines and N-acetylgalactosamine-6-sulfate-sulfatase and beta-galactosidase assays in fibroblasts were normal. Thus, this mild form is different from the so-called Morquio's syndromes types A and B.
D002648:Child; D004838:Epiphyses / Q000473:pathology; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D013429:Sulfatases / Q000378:metabolism; D013577:Syndrome; D001616:beta-Galactosidase / Q000378:metabolism
D006025:Glycosaminoglycans; D013429:Sulfatases; C018719:N-acetylglucosamine-6-sulfatase; D001616:beta-Galactosidase
Hétérogénéité des formes frustes de la maladie de Morquio.