acrocapitofemoral dysplasia
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Pathology
- cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved
- cone-shaped epiphyses were also present to a variable extent at the shoulders, knees, & ankles
Genetics
- associated with defects in IHH
Clinical manifestations
- short stature of variable severity with postnatal onset
Radiology
- the most constant radiographic abnormalities are observed in the tubular bones of the hands & in the proximal part of the femur