Oculoauriculofrontonasal sendrom

Nedeni bilinmiyor

Birinci ve 2. brankiyal ark gelişim anomalisi

Kulak kepçesi hipoplazisi ve derisinde çıkıntılar

Hipertelorizm

Epibulbar dermoidler

Yayvan burun kökü

Yarık dudak

Yarık damak

Mikrognati

Vertebralarda hipoplazi

Üriner anomaliler

 

  • Toriello HV, Higgins JV, Mann R. Oculoauriculofrontonasal syndrome: report of another case and review of differential diagnosis. Clinical Dysmorphology, 4: 338-346, 1995

  • Gabbett MT, Robertson SP, Broadbent R, et al. Characterizing the oculoauriculofrontonasal syndrome. Clinical Dysmorphology, 17: 79-85, 2008

  • Guion-Almeida, M. L., Richieri-Costa, A. Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: a new subtype of frontonasal dysgenesis. American Journal of Medical Genetics A, 152A: 2039-2042, 2010