Figure 1

Radiography and magnetic resonance imaging features in case 1. (A,B) The elder sibling showed generalized and marked osteoporosis with relative expansion of the metaphyseal areas of the bones, completely absent clavicles, partial osteolysis of the bilateral posterior segments of the first to fourth ribs, absence of the costal head of the right 12th rib; severescoliotic deformities, complete osteolysis and resorption of the superior fragment of both radii, a dislocation of the inferior segment of the right ulnoradial joint, and an old, healed fracture of the interior segment of the right ulna. (C) Fixed flexion deformities of the phalanges in the elder sibling with absence of the distal phalanges of the second to fifth fingers. (D) Magnetic resonance imaging features of the elder sibling showing a small pituitary gland with a concavity of the superior border (with a height of about 1mm).