PMC3369844_01
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.
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At this time, his height was below the 3rd percentile for his age (shown in Figures 1A and B). An enlargement of epiphysis did not exist, and the pelvis appeared normal (shown in Figures 1C-F).
PMC3369844_02
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.
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Enlargements of the interphalangeal and genual epiphyses and a deformed pelvis with bilateral femoral neck fractures and enlarged capital femoral epiphyses were observed (shown in Figures 2G-J).
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.
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The skull was normal (Figures 3A-F).
PMC3369844_03
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.
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At his second clinic visit at the age of 6, subtle symptoms consisting of swelling of interphalangeal, metacarpophalangeal and knee joints without stiffness observed (Figures 4G and H). The radiological findings were an increased anteroposterior diameter of the vertebral bodies, irregular vertebral end-plates and a slight enlargement of the metaphyses in the distal femurs, proximal tibiae, phalanges and metacarpals (Figures 4I-K).
The pedigrees and automated sequencing traces of the WISP3 gene mutations in the two families in our study.
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