Dysplasies oto-mandibulaires : génétique et nomenclature des formes syndromiques

Treacher-Collins, 1900, Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones, Trans Ophthalmol Soc UK, 20, 190 Franceschetti, 1949, Mandibulo-facial dysostosis: new hereditary syndrome, Acta Ophthalmol, 27, 143 Rougier, 1977 1996, Positional cloning of a gene involved in the pathogenesis of Treacher-Collins syndrome, Nature Genet, 12, 130, 10.1038/ng0296-130 Dixon, 2000, Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder. Treacher-Collins syndrome, Hum Mol Genet, 9, 1473, 10.1093/hmg/9.10.1473 Nager, 1948, Das Gehororgan bei den angeborenen Kopfmissbildungen, Pract Otorhinolaryngol, 1, 1 Genée, 1969, Une forme extensive de dysostose mandibulo-faciale, J Genet Hum, 17, 45 Wiedemann, 1973, Mibbildungs-Retardierungs-Syndrom mit Fehlen des 5.Strahls an Hânden und Füben, Gaumenspalte, dysplastischen Ohren und Augenlidern und radioulnarer Synostose, Klin Padiatr, 185, 181 Miller, 1979, Postaxial acrofacial dysostosis syndrome, J Pediatr, 95, 970, 10.1016/S0022-3476(79)80285-1 Toriello, 1985, X-linked syndrome of branchial arch and other defects, Am J Med Genet, 21, 137, 10.1002/ajmg.1320210120 Zelante, 1993, Confirmation of the mandibulofacial dysostosis, Toriello type, Am J Med Genet, 15, 534, 10.1002/ajmg.1320450429 Opitz, 1993, Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis, Am J Med Genet, 47, 660, 10.1002/ajmg.1320470517 Ensink, 1997, A new type of maxillofacial dysostosis, inherited as an X-linked or autosomal recessive trait, Genetic Counseling, 8, 285 François, 1954, Anomalies colobomateuses du globe oculaire et syndrome du premier arc, Ann Ocul, 187, 340 Stark, 1962, The first branchial arch syndrome. The oral-mandibular-auricular syndrome, Plast Reconstr Surg, 29, 229, 10.1097/00006534-196203000-00001 Grabb, 1965, The first and second branchial arch syndrome, Plast Reconstr Surg, 36, 485, 10.1097/00006534-196511000-00001 Gorlin, 1963, Oculoauriculovertebral dysplasia, J Pediatr, 63, 991, 10.1016/S0022-3476(63)80233-4 Goldenhar, 1952, Associations malformatives de l'œil et de l'oreille, en particulier le syndrome dermoı̈de épibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale, J Genet Hum, 243 Gorlin, 1976 Ross, 1975, Dysplasie latéro-faciale (syndrome des premier et second arc branchiaux : microsomie hémifaciale), Birth Defects, 11, 51 Converse, 1979, Clinical aspects of craniofacial microsomia, 461 Gorlin, 1990 Poswillo, 1973, The pathogenesis of the first and second branchial arch syndrome, Oral Surg, 35, 302, 10.1016/0030-4220(73)90070-4 Rollnick, 1983, Hemifacial microsomia and variants: pedigree data, Am J Med Genet, 15, 233, 10.1002/ajmg.1320150207 Johnson, 1996, Three generation family with ressemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum, Am J Med Genet, 61, 134, 10.1002/(SICI)1096-8628(19960111)61:2<134::AID-AJMG6>3.0.CO;2-X Kohlhase, 1998, Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome, Nat Genet, 18, 81, 10.1038/ng0198-81 Kohlhase, 1999, Molecular analysis of SALL mutations in Townes-Brocks syndrome, Am J Hum Genet, 64, 435, 10.1086/302238 Abdelhak, 1997, A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family, Nat Genet, 15, 157, 10.1038/ng0297-157 Lambert, 1982, Familial occurrence of a syndrome with branchial dysplasia, mental deficienct, club feet and inguinal herniae, J Med Genet, 19, 214, 10.1136/jmg.19.3.214 Golabi, 1983, A new syndrome of oculoauriculovertebral dysplasia and midline craniofacial defect: the oculoauriculofrontonasal syndrome: two new cases in sibs, Birth Defects Orig Art Ser, XIX, 183 Toriello, 1995, Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis, Clin Dysmorph, 4, 338, 10.1097/00019605-199510000-00010