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Virtual Pediatric Hospital: Paediapaedia: Dwarf, Thanatophoric Paediapaedia: Musculoskeletal Diseases

Dwarf, Thanatophoric

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


Clinical Presentation:
Is a micromelic dwarf that is universally lethal with death in early infancy. If the patient is born alive it develops respiratory distress shortly after birth and dies from cardiorespiratory failure in hours or days.

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:

References:
See References Chapter.

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