Total laryngotracheal hypoplasia in a case of G syndrome

Abstract

We report a case of congenital hypoplasia of the larynx and trachea in the presence of an essentially normal cartilaginous structure. To knowledge this abnormality is not recognized in the literature. Previously reported hypoplasitc laryngeal anomalies have all shown anatomical defects ranging form clefts to atresia (Smith and Bain 1965, Gatti et al.,1987). Similarly total congenital tracheal stenosis is accompanied by abnormalities of the cartilaginous structure, usually complete tracheal rings. These types of anomaly typically present either at, or soon after, birth and are associated with other congenital abnormalities. In this particular case the largngotracheal hypoplasia occurred in the context of a hereditary condition of multiple congenital abnormalities known as G syndrome (also known as Opitz-Frias syndrome or the Opitz-G syndrome).