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- W2154552575 abstract "In 1969, Opitz et al. reported the first case of G Syndrome (Opitz-Frias Syndrome). They presented their clinical observations on 4 brothers from the 'G Family' who shared a constellation of findings with a generalised tendency to midline defects. Major manifestations of this multiple congenital anomaly syndrome include hypertelorism, prominent forehead, cleft lip and palate, narrow palpebral fissures with epicanthal folds, dysphagia, stridor, laryngotracheal oesophageal clefts, and hypospadias. The most significant manifestation of a midline field developmental defect in these infants is aspiration which poses the greatest threat to life. Urgent evaluation should include a water-soluble contrast oesophagram and aerodigestive endoscopy. In addition to repair of the laryngeal cleft, which occurs in approximately 30% of the cases, a tracheostomy, feeding gastrostomy, and Nissen fundoplication are often needed. We report a male infant born with G. syndrome. BBB Syndrome (Opitz Syndrome) is also discussed which bears a striking resemblance to the G Syndrome; in fact, they may be variants of the same allelic syndrome." @default.
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- W2154552575 date "1992-01-01" @default.
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- W2154552575 title "G Syndrome: A review of the literature and a case report" @default.
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- W2154552575 doi "https://doi.org/10.1016/s1010-5182(05)80192-1" @default.
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