Otofaciocervical sendrom (OTFC)

Kalıtsal (AR)

Dış kulak aomalileri

İşitme sorunları

Ductus nasolacrimalis stenozu

Gözyaşı yokluğu

Mikroretrognati

Diş çürükleri

Maloklüzyon

Yüksek omuzlar

Kanatsı skapulalar

El ve ayak anomalileri

Nörolojik bulgular

 

Pohl E, Aykut A, Beleggia F, et al. A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. Human Genetisc, 132: 1311-1320, 2013

Paganini I, Sestini R, Capone G L, et al. A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency. Clinical Genetics, 92: 664-668, 2017

Patil SJ, Bhowmik AD, Bhat V, et al. Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene. American Journal of Medical Genetics, 176A: 1200-1206, 2018