DIASTROPIC DYSPLASIA

Diastrophic dysplasia is an autosomal recessive severe rhizomelic dwarfism secondary to a generalized disorder of cartilage followed by fibrous scars and ossifications.

ULTRASOUND

• Severe micromelia (predominantly rhizomelic).
• Multiple joint contractures.
• Dislocation of one or more large joints.
• Clubfoot.
• Ulnar deviation of hands.
• Widely spaced fingers.
• Hitchhiker's thumb.
• Abnormal spine curvature (not usually present until after birth).
• Axial skeleton.
• Cleft palate (25%).
• Cervical spina bifida occulta.
• Hypoplastic odontoid.

PROGNOSIS

Death in infancy usually due to the tracheomalacia.