Figure 2.

Radiographic findings in two families with PRKG2 variants: radiographs of left upper limb (A) and lower limb (B) in a 26-month-old boy (F1-IV-7) from family 1. The long bones are stocky in appearance but there is no disproportion within the limbs. (C) Pelvic radiograph at age 4 in same child shows development of long, slender femoral necks. (D) Lateral spinal radiograph at age 4 show generalised mild platyspondyly with small central anterior projections of the vertebral bodies, and hypoplasia of the L2 vertebral body. (E) Left hand radiograph at age 11 in same child shows no brachydactyly; there is mild metaphyseal chondrodysplasia evident in the distal radius and particularly the ulna, with some metaphyseal striations (black arrow); subtle coning of the distal phalangeal metaphyses is evident (white arrows), without associated shortening. Pelvic (F) and lateral spine (G) radiographs in middle affected sibling (F1-IV-6) in family 1 showing similar features of long slender femoral necks and platyspondyly with anterior vertebral body projections. Osteopaenia is also evident; this child also has type 1 osteogenesis imperfecta due to a de novo pathogenic variant in COL1A1. Additional radiology is available for F1-IV-3 in online supplemental figure 5 which shows similar results to those for F1-IV-7. (H) Left hand radiograph in female child (F2-V-3, aged 10 years) from family 2 showing generalised brachydactyly. (I) Right upper limb radiograph also from F2-V-3 demonstrates mild disproportionate shortening of the radius and ulna relative to the humerus (mesomelic shortening). (J) Pelvic radiograph from F2-V-3 demonstrates mildly elongated femoral necks. (K) Lateral spine radiograph from the same individual demonstrates mild platyspondyly with small anterior vertebral body projections.