Kalıtsal - AR

Uzun yüz yapısı

Kulak kepçesi ve kulak deliği aşırı küçük

İç kulak aplazisi (doğumsal güçlü işitme sorunları)

Konik dişler

Gregory-Evans CY, Moosajee M, Hodges MD, et al. SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma. Human Molecular Genetics, 16:2482–2493, 2007
Tekin M, Hişmi BO, Fitoz S, et al. Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia. American Journal of Human Genetics, 80:338–344, 2007
Tekin M, Öztürkmen AH, Fitoz S, et al. Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia. Clinical Genetics, 73: 554-565, 2008
Alsmadi O, Meyer BF, Alkuraya Fet al. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). European Journal of Human Genetics, 17: 14-21, 2009
Ramsebner R, Ludwig M, Parzefall T, et al. FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. Laryngoscope, 120:359–364, 2010
Sensi A, Ceruti S, Trevisi P, et al. LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. American Journal of Human Genetics A, 155A: 1096-1101, 2011