Microtia and …

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Note what signs you see.

I (W. Wertelecki, M.D.) see a severely malformed underdeveloped external ear lobe (there may or may not be an ear canal). Often such anomalies are branded as microtia but a small auricle is not implicitly dysmorphic. There also is modest underdevelopment of the mandible often branded as micrognathia.

PERSPECTIVE: Without viewing the frontal images it will be impossible to detect that this individual represents a major highly variable expression (phenotype) of an autosomal dominant gene mutation. Please, see the related Gallery.


Tags: dxTreacherCollins, galEar, ptTreacherCollins2