Fig. 1

General appearance photographs and skeletal system radiographs of patients (II3: a–c, I2: d–f, II2: g–i, III1: j–l) in Family 1,908,322. All the patients presented with disproportionate short neck and trunk and had no deformities in fingers (a, d, g, j). The proband (II3) presented with barrel chest, deformity of elbow and wrist joints (a). The youngest patient (III1) presented with pigeon chest and had normal fingers (j). The spine X-ray photographs of adult patients revealed kyphoscoliosis (b) or kyphosis (e, h). The hip joint X-ray showed bilateral femoral heads ischemia or aseptic inflammation, bilateral hip joints subluxation, bilateral acetabular fossa shallowing, bilateral femoral heads collapsing, bone destruction on articular surface, irregular and low-density shadows under the articular surface, unclear boundary, narrowing of joint space, and shortening of femoral neck (c, f, l). The radiographs of III1 were normal (k–l)