68 Opitz Syndrome
Opitz Syndrome 783
Hypertelorism-hypospadias syndrome, hypospadias-dysphagia syndrome,
Opitz-Frias syndrome, Opitz-G/BBB syndrome
Hypertelorism, hypospadias, esophageal abnormality, upward slanting palpebral fissures, stridorous cry/
dysphagia
Frequency: More than 100 published cases.
Genetics
Genetically heterogeneous; X-linked (OMIM 300000) type I, gene locus, MID1, maps at Xp22; autosomal dominant (OMIM 145410) type II, gene locus at 22q11.2.
Clinical Features
• Hypertelorism, telecanthus, upward slanting palpebral fissures, epicanthal folds
• Cleft lip/palate/uvula
• Micrognathia
• Posterior rotation of ears
• Swallowing difficulties, stridorous cry, gastro- esophageal reflux
• Congenital heart defect
• Hypospadias, cryptorchidism, cleft scrotum, splayed labia majora, anal anomalies
• Mental retardation, agenesis of corpus callosum
• Anteverted nares, posterior pharyngeal cleft (only in type I)
Differential Diagnosis
• Aarskog syndrome
• FG syndrome
Radiographic Features Skull
• Micrognathia
• Orbital hypertelorism
• Fused and supernumerary teeth, malocclusion
• Bony projection of the occipital protuberance Spine
• Vertebral anomalies
O
Fig. 68.1. Patient 1, age 5 years. Hypertelorism, telecanthus, upward slanting palpebral fissures, epicanthal folds, promi- nent ears
Bibliography
Buchner G, Montini E, Andolfi G, Quaderi N, Cainarca S, Messali S, Bassi MT, Ballabio A, Meroni G, Franco B. MID2, a homologue of the Opitz syndrome gene MID1: similari- ties in subcellular localization and differences in expres- sion during development. Hum Mol Genet 1999; 8: 1397–
407
Cordero JF, Holmes LB. Phenotypic overlap of the BBB and G syndromes. Am J Med Genet 1978; 2: 145–52
Jacobson Z, Glickstein J, Hensle T, Marion RW. Further delin- eation of the Opitz G/BBB syndrome: report of an infant with complex congenital heart disease and bladder exstro- phy, and review of the literature. Am J Med Genet 1998; 78:
294–9
Opitz JM. G syndrome (hypertelorism with esophageal abnor- mality and hypospadias, or hypospadias-dysphagia, or
“Opitz-Frias” or “Opitz-G” syndrome) - perspective in 1987 and bibliography. Am J Med Genet 1987; 28: 275–85
Quaderi NA, Schweiger S, Gaudenz K, Franco B, Rugarli E, Berger W, Feldman GJ, Volta M, Andolfi G, Gilgenkrantz S, Marion R, Hennekam RCM, Opitz JM, Muenke M, Ropers HH, Ballabio A. Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet 1997; 17: 285–91
Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxova R, Aleck KA, Allanson JE, Guion-Almeida ML, Martin RA, Leicht- man LG, Price RA, Opitz JM, Muenke M. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nat Genet 1995; 11: 459–61 Robin NH, Opitz JM, Muencke M. Opitz G/BBB syndrome:
clinical comparisons of families linked to Xp22 and 22q, a review of the literature. Am J Med Genet 1996; 62: 305–17 Stevens CA, Wilroy RS. The telecanthus-hypospadias syn-
drome. J Med Genet 1988; 25: 536–42 Opitz Syndrome
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