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Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)

Le Merrer, M.; Verloes, A.; Narcy, P.; Briard, M.L.

Journal de Genetique Humaine 36(3): 257-264

1988

ISSN/ISBN: 0021-7743
PMID: 3411306
Document Number: 313794
We report a family in which Opitz-Frias G syndrome is expressed across 4 generations. The propositus displays hypertelorism, low grade hypospadias, cleft palate and lips and cleft larynx, making the diagnosis of G syndrome very likely. A cousin of his mother discloses similar clefts, vulviform hypospadias, anal imperforation and mental retardation. His clinical appearance fits perfectly the diagnosis of BBB syndrome. A nephew shows ambiguous genitalia and hypertelorism. Authors suggest the lumping of the BBB and the G syndrome.

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Collie, W.R.; Pagon, R.A.; Hall, J.G.; Shokeir, M.H. 1978: ACHOO syndrome (autosomal dominant compelling helio-ophthalmic outburst syndrome) Birth Defects Original Article Series 14(6b): 361-363
Gujrati, M.; Thomas, C.; Zelby, A.; Jensen, E.; Lee, J.M. 1998: Bannayan-Zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: a case report and review of literature Surgical Neurology 50(2): 164-168
Knoblauch, H.; Urban, M.; Tinschert, S. 1999: Autosomal recessive versus autosomal dominant inheritance in Larsen syndrome: report of two affected sisters Genetic Counseling 10(3): 315-320
Al-Mayouf, S. 2005: The new syndrome is not really a new syndrome. Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis, and arthropathy Saudi Medical Journal 26(7): 1161; Author Reply 1161-2
Frisch, H.; Vormittag, W. 1975: Tricho-rhino-phalangeal syndrome with autosomal dominant inheritance Zeitschrift für Kinderheilkunde 120(2): 141-150
Golik, A.; Modai, D.; Pervin, R.; Marcus, E.L.; Fried, K. 1988: Autosomal dominant carpal tunnel syndrome in a Karaite family Israel Journal of Medical Sciences 24(6): 295-297
Vezzoli, G.; Arcidiacono, T.; Paloschi, V.; Terranegra, A.; Biasion, R.; Weber, G.; Mora, S.; Syren, M.Louise.; Coviello, D.; Cusi, D.; Bianchi, G.; Soldati, L. 2006: Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome Journal of Nephrology 19(4): 525-528
Hernando, I.; Benavides, A.; Plasencia, A.; Visus, E.P.; Bousoño, C.; Fernández Toral, J. 1988: Basan's syndrome: dominant autosomal hypohidrotic ectodermal dysplasia Anales Espanoles de Pediatria 28(4): 359-360
Bocian, M.; Rimoin, D.L. 1979: A new autosomal dominant syndrome of hypohidrotic ectodermal dysplasia and unusual facies Birth Defects Original Article Series 15(5b): 239-251
Stoll, C.; Roth, M.P.; Levy, J.M. 1980: Articular contracture with dwarfism and normal intelligence: a new autosomal dominant familial syndrome Journal de Genetique Humaine 28(3): 299-304
Hordijk, R.; Van de Logt, F.; Houtman, W.A.; Van Essen, A.J. 1996: Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance Genetic Counseling 7(2): 113-122
Karakoc-Aydiner, E.; Baris, S.; Keles, S.; Ozdemir, C.; Chatila, T.; Barlan, I. 2013: Inhaled alpha1-antitrypsin administered to treat pneumatocele in autosomal dominant hyperimmunoglobulin e syndrome Journal of Investigational Allergology and Clinical Immunology 23(5): 359-361
Pfeiffer, R.A.; Verbeck, C. 1973: Ectrodactyly, ectodermal dysplasia, and cleft lip and palate: an hereditary syndrome with an autosomal dominant mode of inheritance Zeitschrift für Kinderheilkunde 115(3): 235-244
Curry, C.J.; Hall, B.D. 1979: Polydactyly, conical teeth, nail dysplasia, and short limbs: a new autosomal dominant malformation syndrome Birth Defects Original Article Series 15(5b): 253-263
Gonzalez, C.H.; Durkin-Stamm, M.V.; Geimer, N.F.; Shahidi, N.T.; Schilling, R.F.; Rubira, F.; Opitz, J.M. 1977: The WT syndrome--a "new" autosomal dominant pleiotropic trait of radial/ulnar hypoplasia with high risk of bone marrow failure and/or leukemia Birth Defects Original Article Series 13(3b): 31-38
Dinc, A.; Erdem, H.; Rowczenio, D.; Simsek, I.; Pay, S.; Bahce, M.; Lachmann, H. 2005: Autosomal dominant periodic fever with AA amyloidosis: tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family Journal of Nephrology 18(5): 626-629
Salinas, C.F.; Jorgenson, R.J.; Lorenzo, R.L. 1979: Variable expression in otopalatodigital syndrome; cleft palate in female Birth Defects Original Article Series 15(5b): 329-345
Wilson, W.G.; Harcus, S.J. 1982: Variable expression of a congenital scalp defects/limb malformations syndrome in three generations Birth Defects Original Article Series 18(3b): 123-128
Ioan, D.M.; Dumitriu, L.; Belengeariu, V.; Fryns, J.P. 1997: The oculo-dento-digital syndrome: male-to-male transmission and variable expression in a family Genetic Counseling 8(2): 87-90
Devuyst, O. 2003: Variable renal disease progression in autosomal dominant polycystic kidney disease: a role for nitric oxide? Journal of Nephrology 16(3): 449-452