Treacher-Collins Syndrome (Franceschetti-Zwahlen-Klein Syndrome) is very rare, and inherited as an autosomal dominant with incomplete penetrance and variable expressivity. It is developmental and embryologic malformation of chiefly mandibulo-facial dysostosis with various anomalies including micrognathia, antimongoloid obliquity of palpebral fissure, coloboma of outer third of lower eyelid, ear malformations, cleft palate and straight frontonasal angle. It was described by Treacher-Collins, in 1900 and by Franceschetti, in 1944. Author report a case of 21-years-old male patient with the chief complaints of poor mandibular development, antimongoloid obliquity of palpebral fissure, coloboma of outer third of lower eyelid, bilateral hearing impairment and disturbance of intelligence which was seem to have Treacher-Collins syndrome with the available examination and references. |