Hypertelorism-hypospadias syndrome with a laryngotracheoesophageal cleft

G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias‐dysphagia, or “Opitz‐Frias” or “opitz‐G” syndrome)—perspective in 1987 and bibliography

“…Josephson also used data from three of my unpublished cases left in Madison files (including Dr. Hymie Gordon's patient P.R., whose photo was used by Gorlin et al in their textbook [ 1976, Fig. 73-18], and data from patients in 13 additional published families [Coburn, 1970;Little and Opitz, 1971;Frias and Rosenbloom, 1975;Reed et al, 1975;van Biervliet and van Hemel, 1975;Lacassie and McKusick, 1975;Pedersen et al, 1976;Miller et al, 1977;Cordero and Holmes, 1978;Funderburk and Stewart, 1978;and Greenberg and Schraufnagel, 19791, to base himself on a total of 65 individuals (39 male, 26 female). Excluding the new cases in the G. family (C.G., T.H.…”

Phenotypic overlap of the BBB and G syndromes

“…This type of cleft is known t o be difficult t o find 1221. In light of our experience with E.N., we wonder if the infant reported by Miller et a1 [23] to have the telecanthus-hypospadias syndrome with a laryngotracheoesophageal cleft did not also have the G syndrome rather than the BBB syndrome, as the authors suggest. The features of these two disorders, listed in Table 11, are quite similar, which emphasizes the importance of the esophageal clefts, difficulty in swallowing, and stridor, as distinguishing the G syndrome from the BBB syndrome.…”

BBBG syndrome or opitz syndrome: New family

“…Using the criteria defined by Opitz in the original papers [Opitz et al, 1969a,bl, we have collected in the literature 33 families with G syndrome [Opitz et al, 1969a;Coburn, 1970;Little and Opitz, 1971;Gilbert et al, 1972;Kasner et al, 1974;Van Biervliet and Van Hemel, 1974;Frias and Rosenbloom, 1975;Pedersen et al, 1976;Dodero et al, 1977;Miller et al, 1977;Cordero and Holmes, 1978;Funderburk and Stewart, 1978;Greenberg and Schraufnagel, 1979;Arya et al, 1980;Cote et al, 1981;Kien et al, 1981;Sauer and Hollwarth, 1981;Farndon and Donnai, 1983;Chemke et al, 1984;Somer and Westerlund, 1984;Bolsin and Gillbe, 1985;Einfeld et al, 1987;Neri et al, 1987;Tolmie et al, 1987;Williams and Frias, 19871. Furthermore, we ascertained 18 families with BBB syndrome [Christian et al, 1969;Opitz et al, 196910;Michaelis and Mortier, 1972;Reed et al, 1975;Cordero and Holmes, 1978;Gonzalez et al, 1978;Funderburk and Stewart, 1978;Biasin et al, 1980;Da Silva, 1983;Halal and Farsky, 1981;Stoll et al, 19851. Most of these cases were reviewed by Funderburk and Stewart [ 19781 who delineated the differential diagnosis between the two syndromes.…”