Treacher collins' syndrome

(Edward Treacher Collins, 1862 - 1932, British surgeon), autosomal dominant malformation with variable expression. The features of the syndrome are symmetrical. Hypoplasia of the malar bones and the mandible causes a hypoplastic face with sunken cheek bones. Eye abnormalities include a congenital notch in the lower eyelid margin (eyelid coloboma), and antimongoloid slanting of the palpebral fissure. The auricle is usually malformed and the external auditory meatus may be stenotic or atretic. The middle ear appears hypoplastic; the mastoid is unpneumatized. The tegmen tympani shows variable descent. Ossicular malformations are often present. The facial nerve very often follows an aberrant route through the temporal bone. The inner ear usually appears normal, although the lateral semicircular canal may be shortened and dilated.

Apart from the head and neck manifestations, patients may have other abnormalities.

RH