GARGOYLISM AND MORQUIO'S DISEASE

Autor: ZELLWEGER, H., GIACCAI, L., FIRZLI, S.
Zdroj: AMA American Journal of Diseases of Children; October 1952, Vol. 84 Issue: 4 p421-435, 15p
Abstrakt: AMONG the constitutional disturbances of enchondral bone growth, one must distinguish between disturbances visible at birth (depending on impairment of cartilaginous growth, such as achondroplasia and dyschondroplasia) and the progressive disturbances appearing after birth, in which the enchondral ossification is primarily impaired.Whereas today the former group is well defined, the latter still presents many difficulties both in classification and in diagnosis in single cases. Recently, Cocchi1 made a survey of more than 300 cases and separated them into three distinct categories: (1) dominantly inherited multiple enchondral dysostosis without cloudy corneae (Leri type), (2) recessively inherited multiple enchondral dysostosis without cloudy corneae (Morquio type), and (3) recessively inherited multiple enchondrial dysostosis with cloudy corneae (Hurler type).It is not always easy to establish the line of inheritance in every case, since quite a number of cases have been reported in which the condition appeared in members of otherwise normal
Databáze: Supplemental Index