All issues > Volume 31(10); 1988

Original Article

J Korean Pediatr Soc. 1988;31(10):1371-1375. Published online October 31, 1988.

A Case of Treacher Collins Syndrome.

B I Choo¹, Y M Jung¹, S S Kee¹, U S Shim¹, H S Lee¹

¹Department of Pediatrics, Gil Hospital, Incheon, Korea

Received: August 10, 1987;  Accepted: May 10, 1988.

Abstract

The authors report a 3 days old newborn who showed the abnormalities comprising relatively complete form of Treacher Collins syndrome. These include following findings; 1) Antimongoloid slant of palpebral fissures. 2) Coloboma in outer third of lower lid with absence of cilia medial to coloboma. 3) Large nose with narrow nares and flattened frontonasal angle. 4) Macrostomia with cleft palate. 5) Deformed pinna, extra ear tag, blind fistura, absent external auditory canals, multiple anomalies of middle ear with frequenct conductive deafness. 6) Hypoplastic zygomatic arch and mandible, abnormal growth of hair from temporal area toward cheeks.

Keywords :Treacher Collins Syndrome