[40 years' development of a case of pseudo-achondroplasia. Role of mechanical and cellular factors in joint destructions].
A man with pseudoachondroplasia was examined on several occasions between the ages of 13 and 50 years. The patient presented with all the signs typical of the disease: severe rhizomelic dwarfism discovered during the second year of life, relatively normal height of trunk, short and massive hands and feet, waddling gait, gross epiphyseal [corrected] gland alterations and shallow vertebral bodies. A review of the literature yielded some 70 cases published since 1959. The main point in the course of the disease was the absence of important changes in radiological abnormalities between the ages of 20 and 50 years. Furthermore, in spite of pronounced epiphyseal lesions [corrected] the patient did not develop severe osteo-arthritis. These findings suggest that beside mechanical factors cellular factors intervene in the development of osteo-arthritis [corrected]
Nores
J M
JM
Service de Médecine interne, Hôpital Raymond Poincaré, Garches.
Maroteaux
P
P
D000130:Achondroplasia / Q000000981:diagnostic imaging* / Q000503:physiopathology; D001842:Bone and Bones / Q000000981:diagnostic imaging*; D004392:Dwarfism / Q000000981:diagnostic imaging; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D010003:Osteoarthritis / Q000503:physiopathology*; D011859:Radiography; D013997:Time Factors
Evolution sur 40 ans d'un cas de pseudo-achondroplasie. Rôle des facteurs mécaniques et cellulaires dans les destructions articulaires.