Dwarf, Thanatophoric

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed

Etiology/Pathophysiology:
Not applicable

Pathology:
Not applicable

Imaging Findings:
There is a constricted bell shaped thorax with hypoplastic lungs. There is platyspondyly (short flattened vertebral bodies) with normal intervertebral disk spaces and narrowing of the distal interpediculate distances. Pelvic deformities include short iliac wings and wide flat acetabular angles. Shortened extremities, predominantly proximal (rhizomelic), with arms outstretched, legs externally rotated, femurs short and bowed (telephone receiver), and the metaphyses of the femur are flared and cuffed. Bullet shaped phalanges are present. The facial bones are small with a large calvarium and cloverleaf deformity of skull (Kleeblattschadel) may be present.

DDX:

• Homozygous achondroplasia - both parents are dwarfs
• Achondrogenesis - has more severe shortening of the trunk, and a characteristic ossification pattern
• Severe hypophosphatasia - has delicate tubular bones and characteristic metaphyseal ossification defects with an unossified calvarium

References:
See References Chapter.

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