Nager FR, de Reynier: Das gehororgan bei den angeborenen kopfmissbildungen. Pract Otorhinolaryngol (Basel). 1948, 10 (Suppl 2): 1-128.
Google Scholar
Opitz JM: Nager "syndrome" versus "anomaly" and its nosology with the postaxial acrofacial dysostosis syndrome of Genee and Wiedemann. Am J Med Genet. 1987, 27: 959-964. 10.1002/ajmg.1320270425.
Article
CAS
PubMed
Google Scholar
Chemke J, Mogilner BM, Ben-Itzhak I, Zurkowski L, Ophir D: Autosomal recessive inheritance of Nager acrofacial dysostosis. J Med Genet. 1988, 25: 230-232. 10.1136/jmg.25.4.230.
PubMed Central
Article
CAS
PubMed
Google Scholar
Bonthron DT, Macgregor DF, Barr DGD: Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance. Clin Genet. 1993, 43: 127-131.
Article
CAS
PubMed
Google Scholar
Wiedemann H-R: Missbildungs-Retardierungs-Syndrom mit Fehlen des 5. Strahls an Handen und Fussen, Gaumenspalte, dysplastischen Ohren und Augenlidern und radioulnarer Synostose. Klin Padiatr. 1973, 185: 181-186.
CAS
PubMed
Google Scholar
Dixon MJ: Treacher Collins syndrome. Hum Mol Genet. 1996, 5: 1391-1396.
CAS
PubMed
Google Scholar
Basel D, Goldblatt J: Tibial aplasia – VACTERL association, a new syndrome?. Clin Dysmorphol. 2000, 9: 205-208.
Article
CAS
PubMed
Google Scholar
Christiansen JV, Petersen HO, Sogaard H: The CHILD syndrome – congenital hemidysplasia with ichthyosiform erythroderma and limb defects. A case report. Acta Derm Venereol. 1984, 64: 165-168.
CAS
PubMed
Google Scholar
Harding AE, Hall CM, Baraitser M: Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia). J Med Genet. 1982, 19: 110-115. 10.1136/jmg.19.2.110.
PubMed Central
Article
CAS
PubMed
Google Scholar
Kaissi AA, Ghachem MB, Necib MN, Chehida FB, Karoui H, Baraitser M: Hypohidrotic ectodermal dysplasia with tibial aplasia. Clin Dysmorphol. 2002, 11 (3): 175-8. 10.1097/00019605-200207000-00004.
Article
PubMed
Google Scholar
Al Kaissi A, Grill F, Safi H, Ben Ghachem M, Ben Chehida F, Klaushofer K: Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome. Orphanet J Rare Dis. 2: 2-10.1186/1750-1172-2-2. 2007 Jan 8;
Al Kaissi A, Csepan R, Klaushofer K, Grill F: Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide). Cases Journal. 2008, 1: 109-10.1186/1757-1626-1-109.
PubMed Central
Article
PubMed
Google Scholar
Thompson E, Cadbury R, Baraitser M: The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot. J Med Genet. 1985, 22: 408-410. 10.1136/jmg.22.5.408.
PubMed Central
Article
CAS
PubMed
Google Scholar
Fryns JP, Bonhomme A, Berghe Van den H: Nager acrofacial dysostosis. An adult male with severe neurological deficit. Genetic Counseling. 1996, 7: 147-152.
CAS
PubMed
Google Scholar
Herrmann BW, Karzon R, Molter DW: Otologic and audiologic features of Nager acrofacial dysostosis. Int J Ped Otorhinolaryngol. 2005, 69: 1053-1059. 10.1016/j.ijporl.2005.02.011.
Article
Google Scholar
Guttmacher AE: New syndrome. Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias. Am J Med Genet. 1993, 46: 219-222. 10.1002/ajmg.1320460223.
Article
CAS
PubMed
Google Scholar
Lettice LA, Horikoshi T, Heaney SJ, Van Baren MJ, Linde van der HC, Breedveld GJ, Joosse M, Akarsu N, Oostra BA, Endo N, Shibata M, Suzuki M, Takahashi E, Shinka T, Nakahori Y, Ayusawa D, Nakabayashi K, Scherer SW, Heutink P, Hill RE, et al: Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci USA. 2002, 99: 7548-7553. 10.1073/pnas.112212199.
PubMed Central
Article
CAS
PubMed
Google Scholar