The G syndrome/Opitz oculo-genital-laryngeal syndrome/Opitz BBB/G syndrome/Opitz-Frias syndrome

Abstract

We report on a family exhibiting a range of congenital anomalies consistent with the G syndrome of Opitz. Three members of the family had laryngo-tracheo-oesophageal clefts, one of which succumbed. There was a strong family history of perinatal mortality on the maternal side of the family. We note also the paucity of reported cases of this syndrome in the otolaryngological literature and stress the necessity of early diagnosis in the management.