Treacher Collins syndrome. • Downslanting eyes • Notches of the lower eyelids, most frequently on the lateral 1/3 • Mandibular hyploplasia • Prominent nose • Broad mouth • Small chin with a steep angle of the lower jaw • Microtia • Sideburns • Hearing loss, usually conductive. • The nasopharynx may be narrow. The dysmorphic features include a broad nose, low-set ears, a small mandible, and syndactyly. The periodic paralysis may be associated with hyperkalemia, hypokalemia, or normokalemia. The prolonged QT interval may be the only feature in some individuals.
Midfacial hypoplasia is present. The neck is broad and the shoulders are narrow. The fingers are long and the distal phalanges may be fixed in flexion. The ears are low-set, small, and cupped. The palate is high and may be cleft. Cutaneous syndactyly of the fingers has been observed. In Saethre–Chotzen syndrome, the ears may be low set, posteriorly rotated, have other minor anomalies and there may be a presence of a conductive hearing loss or a mixed hearing loss (Perterson-Falszone, 2001). Hearing loss in this group can also be caused by middle ear disease when a cleft .
Low set ears may be appreciated in a _____ or _____ view. oblique facial cleft: failure of maxillary prominence to merge with the lateral nasal swelling, with exposure of the nasolacrimal duct Chapter 58: The Fetal Face and Neck 84 terms. Kcasanas. Chapter 58 - Fetal Face and Neck 99 terms. vanessa_villarreal11. Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large low-set ears.