Skeletal abnormalities
Skeletal abnormalities in radial dysplasia depend on the severity of the anomaly. However, typical features include:
- humeral defects:
- short humerus
- hypoplastic:
- coronoid
- capitulum
- medial condyle
- reduced range of motion and stiffness at the elbow as a result of hypoplasia
- radius:
- a spectrum from mild hypoplasia, typically of the distal radius, to complete absence
- a fibrous anlage replacing the hypoplastic distal part of the radius; in terms of pathogenesis of subsequent deformity, this rigid band may worsen radial bowing by acting as a check rein on the radial side
- ulna:
- often curved and progresses with growth
- does not reach the size of the contralateral ulna with or without intervention
- carpal bone:
- hypoplasia, absence or fusion
- typically the scaphoid and trapezium
- metacarpal and phalangeal hypoplasia on the radial side of the hand
- thumb:
- hypoplasia or absence
- additional middle phalanx, particularly in cases associated with thalidomide exposure
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