S

 

Setleis sendromu (focal facial dermal dysplasia 3)

Kalıtsal - AR

Bitemporal ya da preauricular deri defektleri

Forseps izini anımsatan bitemporal çökmeler

Burun sırtı basık

Saçlar seyrek/ince

Kirpik yokluğu ya da alt kapakta çok sıralı kirpik

Meibomian bezlerinin agenezi

Kaşlar yanlara çekilmiş

Kaba yüz yapısı

Aslan yüzü görünümü

Yüz derisi gevşek

Yanak yarığı

Deride hipopigmentasyon ya da hiperpigmentasyon

 

  • McGaughran J, Aftimos S. Setleis syndrome: three new cases and a review of the literature. American Journal of Medical Genetics, 111(4):376-380, 2002

  • Cervantes-Barragán DE, Villarroel CE, Medrano-Hernández A, et al. Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification. Journal of Medical Genetics, 48(10):716-720, 2011

  • Slavotinek AM, Mehrotra P, Nazarenko I, et al. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Human Molecular Genetics, 22: 696-703, 2013

  • Rosti RO, Uyguner ZO, Nazarenko I, et al. Setleis syndrome: Clinical, molecular and structural studies of the first TWIST2 missense mutation. Clinical genetics, 88(5):489-493, 2015