G syndrome is a genetic disorder characterized by the association of distinctive craniofacial anomalies, genito-urineal malformations, and abnormalities of the larynx, pharynx and/ or trachea. Craniofacial anomalies of the G syndrome include widely set eyes (hypertelorism), cleft palate/lip, palpebral fissures, epicanthal folds, posteriorly oriented external ears, and a wide nasal bridge. Genito-urineal malformations in the affected males may include cryptorchidism, bifid scrotum, or hypospadias. Defective swallowing with regurgitation and a horse cry, wheezing and stridorous respiration is consistently present as a result of larynx, pharynx and/or trachea abnormalities. Sometimes, the abnormalities may involve the ventral midline, lungs (hypoplasia), anal opening (imperforate anus), corpus callosum (hypoplasia or agenesis), and heart. Mental retardation can also be one of the clinical features. Ultrasonography is the best recommended prenatal diagnosis method for G syndrome. Multidisciplinary management is required for each patient and alternative feeding methods should be proposed.
In 1987, Khan et al. described a 20-day-old infant with a history of difficulty in breathing and episodes of generalized cyanosis of two weeks duration. Physical examination displayed distressing cough, severe chest retraction, and choking on his copious secretions. He had an odd looking facies with marked hypertelorism, prominent occiput, low-set ears, and a large mouth with a large upper lip. Also, he revealed other abnormal findings that had not been reported previously like; high-arched palate, partial malrotation of the gut, and hydrocele of the right scrotal sac. Chest roentgenogram demonstrated bilateral pulmonary infiltrares, air trapping, and atelectasis of the right apical lobe. He developed repeated episodes of aspiration pneumonitis and he died suddenly at the age of five and a half months during an attack of severe respiratory distress. Since there was no family history of such complications, Khan et al. (1987) could not identify the mode of inheritance in that case, whether it was autosomal dominant or X- linked.
[Khan IM, Mukharraq HJ, Mohammad AM. G syndrome: a case report. Bahrain Medical Bull. 1987; 9(2):87-90.]