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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Fig. 2

Pictures of four affected individuals and standard radiographs of the spine, pelvis and limbs of two patients. AD 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 roof

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