Oculo-auriculo-vertebral spectrum: cranial and vertebral malformations due to focal disturbed chondrogenesis.

Abstract

Microradiographic and histological analyses point out a focal disturbed chondrogenesis of both the skull base and the axial skeleton in a case of oculo-auriculo-vertebral spectrum. Cartilage showed disturbed endochondral ossification with defects in calcification, deficient resorption, and abnormal crumpled areas of mineralized cartilage.