Education Icon

Thanatophoric Dwarf

Thomas F Gudas, MD
Piran Aliabadi, MD

January 17, 1995

Presentation

A 22-week fetus was electively aborted due to fetal anomalies.

Imaging Findings

Lateral Radiograph
Posteroanterior Radiograph

Plain radiographs demonstrate severe rhizomelic dwarfism (involving the shoulder joint and hip joint) and a large head. There is extreme generalized platyspondy (flattening of the vertebral bodies)(arrow) with excessive intervertebral disc space heights. The chest is narrowed, and the ribs are short and horizontal. There is bowing of the extremities; the femora resemble "telephone handles" (arrow). The iliac wings are small and square with narrowing of the sacrosciatic notches.

Differential Diagnosis

These are classic findings of thanatophoric dysplasia. Patients with Ellis-van Creveld syndrome (chondroectodermal dysplasia) usually have polydactyly and short acromesomelic limbs (shortened midportion and extremities of limbs). Asphyxiating thoracic dysplasia is characterized by less marked bone shortening and sparing of the vertebrae.

Diagnosis

thanatophoric dysplasia

Discussion

Thanatophoric dysplasia is a sporadic lethal skeletal dysplasia. It occurs in approximately 1:10,000 births and is the most common lethal bone dysplasia. Infants are hypotonic with protruberant abdomens and abducted externally rotated thighs. The most typical plain film findings are pronounced flattening of the vertebral bodies, bowed extremities, and severe rhizomelic dwarfism. The disorder is uniformly fatal within hours to days after birth from respiratory failure.

Dear Visitors: Nothing on this World Wide Web site should be considered medical advice. Only your own doctor can help you make decisions about your medical care. It is not the policy of the Brigham and Women's Hospital Department of Radiology to provide consultation on the World Wide Web or via e-mail. If you have a specific medical question or are seeking medical care, please call the Brigham and Women's Hospital toll-free physician referral line at 1-800-294-9999.

Is this a mirrored page?
The official homepage of the BrighamRAD Teaching Case Database is http://brighamrad.harvard.edu/education/online/tcd/tcd.html

Contact the BrighamRAD Design Team for additional information about this website.