Auriculocondylar sendrom

Kalıtsal

3 fenotip

• 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

• 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

 

• 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

• 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

• 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

• 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

• 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

• McGowan R, Murday V, Kinning E, et al. Novel features in auriculo-condylar syndrome. Clinical Dysmorphology, 20: 1-10, 2011

• 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

• 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

• 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