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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Fiberoptic tracheal intubation through a laryngeal mask airway in a child with Treacher Collins syndrome.

Treacher Collins syndrome ( TCS) is a rare inherited condition characterized by bilateral and symmetric abnormalities of structures within the first and second bronchial arches. The mechanism of inheritance is autosomal dominant with variable expressivity. Because of this variability in expression, some affected individuals exhibit virtually no overt clinical manifestations. However, most children with TCS present with the following classic facial features: down-sloping palpebral fissures, colobomata of the lower eyelid, scanty lower eyelashes, malar hypoplasia, and micro- or retrognathia. Cleft palate is present in up to 35% of patients and an additional 30-40% have congenital palatopharyngeal incompetence. Abnormalities of the ear are very common and vary from minor malformations to severe microtia and hearing loss. Hearing loss may be due to atresia of the auditory canals or ossicular malformation of the middle ear. Despite these many development abnormalities, TCS patients are usually of normal intelligence. We report the case of a 3 1/2-yr-old patient with TCS undergoing cleft palate repair and discuss fiberoptic intubation through a laryngeal mask airway using two endotracheal (ETT) tubes secured via an ETT connector.[1]


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