acromicric dysplasia
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Genetics
- associated with defects in FBN1 (autosomal dominant)
Clinical manifestations
- severe short stature
- short hands & feet
- joint limitations
- skin thickening
- characteristic facial features including
- round face
- well-defined eyebrows, long eyelashes
- bulbous nose with anteverted nostrils
- long & prominent philtrum
- thick lips with a small mouth
- hoarse voice
- pseudomuscular build
Radiology
- radiographs
- delayed bone age
- cone-shaped epiphyses
- shortened long tubular bones
- ovoid vertebral bodies
- distinct skeletal features
- internal notch of the femoral head
- internal notch of the second metacarpal
- external notch of the fifth metacarpal