Auriculocondylar sendrom
Kalıtsal
3 fenotip
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Fenotip 1 (AD) ve 2 (AD/AR):
Benzer bulgular
Makrosefali
Kulak anomalileri (çok sayıda)
Yuvarlak yüz
Mikrognati
Mikrostomi
Mandibula agenezi
Mandibula kondil agenezi
Mandibula kondil hipoplazisi
Mandibula koronoid hipoplazisi
Asimetrik mandibula
Kısa ramus
TME patolojileri
Yarık damak
Glossoptozis
Çiğneme ve konuşma bozuk
Maloklüzyon
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Fenotip 3 (AR):
Kulak anomalileri (görece az sayıda)
Mikrognati
Retrognati
Mandibula hipoplazisi
Yumuşak damak yarığı (submukozal)
Glossoptozis
Dilde hamartomalar
Ektopik uvula
Uvula bifida
Larinks yarığı
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Guion-Almeida ML, Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini S. Auriculo-condylar syndrome: further evidence for a new disorder. American Journal of Medical Genetics, 86: 130-133, 1999
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Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Kokitsu-Nakata NM. Auriculo-condylar syndrome: additional patients. American Journal of Medical Genetics, 112: 209-214, 2002
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Storm AL, Johnson JM, Lammer E, et al. Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds. American Journal of Medical Genetics, 138A: 141-145, 2005
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Masotti C, Oliveira KG, Poerner F, et al. Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity. European Journal of Human Genetics, 16: 145-152, 2008
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Passos-Bueno MR, Ornelas CC, Fanganiello RD. Syndromes of the first and second pharyngeal arches: A review. American Journal of Medical Genetics, 149A:1853–1859, 2009
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McGowan R, Murday V, Kinning E, et al. Novel features in auriculo-condylar syndrome. Clinical Dysmorphology, 20: 1-10, 2011
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Rieder MJ, Green GE, Park SS, et al. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. Am. J. Hum. Genet. 90: 907-914, 2012. Note: Erratum: American Journal of Human Genetics, 90: 1116 only, 2012
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Gordon CT, Petit F, Kroisel PM, et al. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. American Journal of Human Genetics, 93: 1118-1125, 2013
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Gordon CT, Vuillot A, Marlin S, et al. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. Journal of Medical Genetics, 50: 174-186, 2013