Fig. 2From: Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndromePictures of four affected individuals and standard radiographs of the spine, pelvis and limbs of two patients. A–D Pictures of two affected individuals from family 2 who both have herniated cervical discs. E, F Pictures of affected individual II1 from family 3 showing short stature, pes planus, bowed tibia, genu valga and rotated distal femura distal femur. G, H Clinical appearance of proband II1 from family 1 showing pes planus, mild midface hypoplasia, upturned nose and low set ears. I, J Hand and foot radiographs showing short metacarpalia and a broad big toe for individual II1 from family 3 at the age of 10 years. K, L Radiograph images of the right hand and wrist joint of individual II1 from family 1 at the age of 28 years, showing short metacarpalia with widened epiphyses and an irregular radius epiphysis. M, N Radiographs of the spine of II1 from family 1, showing mild platyspondyly of the thoracic spine as well as signs of ankylosing spondylitis. O Knee radiograph of proband II1 from family 3 showing genua valga and irregular femur epiphyses. P Knee radiograph of proband II1 from family 1 demonstrating genua valga and widened femur epiphyses. Q Pelvis radiograph individual II1 of from family 3 showing a flat acetabular roof with irregularities and flattened capiti femori, as well as broadened and shortened necks. R Radiograph of the pelvis of individual II1 from family 1 showing a relatively narrow intraarticular space but well developed capiti femori and no flattening of the acetabular roofBack to article page