Volume 29
Number 0
Jan 2021
Back to issue
Case Reports
R. Ibrahim, D. Hejazi Albasha, H. Daood

Treacher Collins syndrome is an inherited and rare, autosomal dominant condition that presents several craniofacial deformities at different levels. The disorder is characterised by abnormalities of the auricular pinna, hypoplasia of facial bones, antimongoloid slanting palpebral fissures with coloboma of the lower eyelids and cleft palate. This condition affects an estimated 1 in 50,000 people. Upper airway obstruction and difficult tracheal intubation are often encountered in patients with this syndrome. Neonates and small infants with craniofacial abnormalities may represent great challenges regarding the management of the airway. We present a 40-dayold baby girl with Treacher Collins syndrome. The infant was seen in our hospital for sudden-onset respiratory distress that progressed rapidly to respiratory failure. Chest X-ray was consistent with pneumonia. The patient developed worsening respiratory distress and was transferred to the intensive care unit and mechanically ventilated. She proved difficult to intubate and difficult to wean. Tracheostomy and gastrostomy were necessary in the management of this patient. We discuss the importance of a multidisciplinary planned approach in the management of this rare syndrome.

Back to issue - Download PDF