Jansen's metaphyseal dysostosis.
A case of Jansen's metaphyseal dysostosis, a rare disorder of endochondral ossification, is described. This is the first case in which the severe radiographic manifestations of this disease were detected at birth. Linear growth is significantly retarded at 2 years of age. Nevertheless, because full ossification with trabeculae is anticipated, early recognition and appropriate management during the phase of active growth should minimize deformities.
D000328:Adult; D002358:Cartilage, Articular / Q000000981:diagnostic imaging; D004392:Dwarfism / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis*; D007866:Leg / Q000000981:diagnostic imaging; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome