Figure 1.
The photographs and X-ray images of the proband in family 1.
(A&B) Short-trunk disproportionate dwarfism and enlargement of the elbow and genual joints; (C) platyspondyly and ovoid anterior end-plate of vertebral bodies; (D) widened tibial metaphysis; (E) widened cubital metaphysis; (F) a normal pelvis at 5 years of age.
Figure 2.
The X-ray images of patient II 1 in family 1.
(G) Platyspondyly of the lumbar spine: the vertebral bodies are wedged anteriorly, and there are narrow disc spaces, irregular vertebral end-plates and short pedicles; (H) enlargement of the epiphyseal and metaphyseal portions of the metacarpals and phalanges; (I) bilateral femoral neck fractures and enlargement of the capital femoral epiphyses; (J) an enlargement of genual epiphyses.
Figure 3.
The X-ray images of patient II 1 in family 2.
(A) Flattened vertebrae on the cervical spine and normal skull; (B) flattened vertebrae on the thoracic and lumbar spine with anterior beaking and an increased anteroposterior diameter of the vertebral bodies; (C) enlargement of the interphalangeal, metacarpal and metacarpophalangeal epiphyses; (D) narrow joint spaces and irregular articular surfaces of hip joints with short femoral necks; (E) slight enlargement of elbow epiphyses and metaphyses; (F) flattened talus with narrow joint spaces.
Figure 4.
The photographs and X-ray images of patient II 2 in family 2.
(G) The hands display interphalangeal joint swelling; (H) a swollen knee; (I) slight enlargement of the metacarpophalangeal epiphyses; (J) slight enlargement of the femoral and tibial epiphyses; (K) an increased anteroposterior diameter of the vertebral bodies and irregular vertebral end-plates.
Figure 5.
The pedigrees and automated sequencing traces of the WISP3 gene mutations in the two families in our study.
Table 1.
General characteristics of 4 PPD patients in two families
Table 2.
Summary of all currently known WISP3 gene mutations in PPD
Table 3.
Sequences of the primers designed for PCR amplification and sequencing of the WISP3 gene