Microtia and …

Please click to enlarge.

Note what signs you see.

I (W. Wertelecki, M.D.) see a severely partially and maldeveloped left auricle (external ear lobe) and a severely underdeveloped mandible (lower jaw) often referred to as micrognathia (which strictly speaking refers to the distal ends of the mandible).

PERSPECTIVE: Please see the frontal view of the face of this patient – collectively these are indicative of a dysmorphic syndrome. The syndrome is a prototype of a highly variable expression of a single gene autosomal mutation. Please, see the related gallery.

 

Tags: dxTreacherCollins, galEar, ptTreacherCollins1