Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: importance of long-term follow-up

Abstract

We report a girl with a unique type of enchondromatosis observed from birth to puberty. Radiographic abnormalities documented at the age of 14 months included distinctive spondylometaphyseal enchondromatous types of lesions with minimal involvement of the short tubular and flat bones. Follow-up radiographic examinations documented progressive coxa vara and hypoplasia/dysplasia of the left ulna. At puberty, the short tubular bones appeared normal. There was marked regression of the flat bone, rib, and spinal lesions. This case shows the importance of long-term observation of unclassified forms of skeletal dysplasia.