G Syndrome and its Otolaryngologic Manifestations

Abstract

G syndrome is a familial constellation of congenital anomalies that include a distinctive facies, ocular hypertelorism, prominent occiput and forehead, short lingual frenulum, stridor, hoarse cry, and laryngotracheoesophageal (LTE) clefts, as well as hypospadias and cryptorchidism. Approximately one third of the reported cases have also involved cleft lip and/or palate. Thirty cases of this syndrome have been reported in the pediatric and genetic literature, with variable expression of the syndrome characteristics. The purpose of this article is to report two additional cases of G syndrome with LTE cleft. A technique for repair of LTE cleft via a lateral pharyngeal approach is described. Although G syndrome is rare, otolaryngologists should be aware of its association with LTE cleft and its potential life-threatening problems.