Fig. 1From: A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case reportClinical photographs of the patient. A–C Facial characteristics including flat face and short neck. D, E Short lower limbs. F Brachydactyly and enlargement of medium interphalangeal joints. G, H Platyspondyly with irregular vertebral endplates. I, J Metaphyseal enlargement of medium interphalangeal and knee joints. L Heterogeneous bone structure of the proximal femur. K, M Osteochondritis of the right ankleBack to article page