Which physical findings are characteristic of ataxia-telangiectasia?

Updated: Jul 28, 2020
  • Author: Andrew A Dahl, MD, FACS; Chief Editor: Hampton Roy, Sr, MD  more...
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Answer

The facies are usually dull, relaxed, and sad, but they are in sharp contrast to the cheerful alert appearance when the child is made to smile.

Hair and skin tend to be coarse and dry. Some gray hair is visible.

Ataxia of stance and gait, greatly diminished tendon reflexes, dysmetria of the arm movements, decreased tone in the arms and legs, and flexor plantar reflexes are present.

Vascular markings of the bulbar conjunctiva, external ears, nasal septum, butterfly of the face, and hard and soft palates are seen.

Tympanic membranes usually are scarred and thickened.

Postnasal drainage and drooling usually are present.

Inspiratory and expiratory rales are present in the lungs.

Testicular or ovarian atrophy is often present.


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