Diagnostic differentiation criteria:PLOD1-associated kyphoscoliotic type 1 - marfanoid phenotype, profound skin bruisability, scleral and ocular ruptures;FKBP14-associated kyphoscoliotic type 2 - hearing loss, follicular hyperkeratosis, muscular atrophy, bladder diverticulum. The gene discussed is PLOD1; the disease is muscular atrophy.