J Korean Assoc Oral Maxillofac Surg.  2004 Oct;30(5):422-427.

Acute airway obstruction in an infant with treacher collins syndrome: Report of a case

• Ryu SY
• Seo IY
• Hwang U
• Kim SK

Abstract

Treacher Collins syndrome is inherited as an autosomal dominant trait with variable penetrance. It shows a marked variability even in the same family. This syndrome is developmental defect affecting the branchial arches. It is not usually associated with acute respiratory distress, but has symptoms of microtia, hypoplastic zygomatic bones, hypoplastic mandibular rami, and bilateral coloboma. It usually requires an emergency operation immediately after the birth. We experienced an infant with Treacher Collins syndrome who showed retrognathia, glossoptosis, microtia, and cleft palate. Intermittent cyanosis, depression of the chest, respiratory difficulty associated with airway obstruction, and swallowing difficulty were also observed. To relieve severe upper airway obstruction caused by retrognathia and glossoptosis, we simultaneously performed tongue-lip adhesion and subperiosteal release of the floor of the mouth. The respiratory and swallowing difficulties were relieved and the tongue repositioned anteriorly. We report the present case with a review of the literature.

Keyword

Treacher Collins syndrome; Airway obstruction; Surgical treatment

MeSH Terms

Airway Obstruction*
Branchial Region
Cleft Palate
Coloboma
Cyanosis
Deglutition
Depression
Emergencies
Humans
Infant*
Mandibulofacial Dysostosis*
Mouth
Parturition
Penetrance
Retrognathia
Thorax
Tongue