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A Case of Treacher Collins Syndrome.

Journal of the Korean Pediatric Society 1988;31(10):1371-1375.
Published online October 31, 1988.
A Case of Treacher Collins Syndrome.
B I Choo, Y M Jung, S S Kee, U S Shim, H S Lee
Department of Pediatrics, Gil Hospital, Incheon, Korea
Treacher Collins Syndrome
추병인, 정양미, 기상석, 심욱섭, 이학수
인천 길병원 소아과
Received: 10 August 1987   • Accepted: 10 May 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.
Key Words: Treacher Collins Syndrome


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