RESUMO
The clinical features and the mutation of cartilage oligomer matrix protein (COMP) gene were analyzed in 8 patients with pseudoachondroplasia (PSACH).The clinical data and the peripheral blood from 5 male and 3 female probands,their pedigree members,and 250 unrelated volunteers were collected.Eight patients who were sporadic cases,had been detected mutation of COMP gene by DNA sequencing.PSACH is a skeletal disorder characterized by short stature,joint laxity,and early-onset osteoarthritis.The heights of 8 patients were significantly lower than the average level by 3 standard deviations,with short limbs and deformities of legs.Radiographs showed flattening of vertebrae with anterior beaking or tonguing in children and osteoarthritis in adults.As to the patients with short limb dwarfism,short toes,and abnormal radiography findings,PSACH should be suspected and could be confirmed by detection of COMP gene mutation.