Two Cases of Spondylo-epiphyseal Dysplasia Comparison between Congenita and Tarda

• Published in: Orthopedics & Traumatology Vol. 39; no. 2; pp. 695 - 700
• Main Authors: Ikeda, Masaki, Takata, Mitsuyoshi, Ieshima, Atsushi
• Format: Journal Article
• Language: English
• Published: West-Japanese Society of Orthopedics & Traumatology 25.10.1990
• ISSN: 0037-1033; 1349-4333
• DOI: 10.5035/nishiseisai.39.695

Spondylo-epiphyseal dysplasia (SED) is classified broadly into congenita type and tarda (late onset) type. Both types of SED were characterized by dwarfism of short trunk type, platyspondyly and coxopathy, but some differences between them were found. In this study, each one case of SED congenita and tarda was reported and compared each other. Case 1: A 14-year-old boy, diagnosed as SED congenita, showed dwarfism of short trunk at birth. X-rays showed platyspondyly with irregularity of end-plate, the disappearance of femoral head, odontoidal hypoplasia of axis and atlanta-axial dislocation. Severe scoliosis was noted and treated with brace. Serum concentration of testosteron was decreased and the gonadotropin treatment was done. Case 2: A 14-year-old girl, diagnosed as SED tarda, developed dwarfism of short trunk type after infant. X-rays showed platyspondyly with irregularity of end-plate and the small femoral head with the irregular surface. The excretion of keratansulfate in the urine showed normal range in both cases.