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
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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
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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
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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
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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