Barber-Say sendromu

Kalıtsal - AD

Garip yüz yapısı

Hipertelorizm

Kaşlar seyrek

Belirgin burun

Makrostomi

Dudaklar ince

Prognatizm

Meme uçları agenezi/hipoplazisi

Dış genital organ anomalileri

Deri kuru

Hipertrikoz

 

• Martinez Santana, S., Perez Alvarez, F., Frias, J. L., Martinez-Frias, M.-L. Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say syndrome): report of a new case. American Journal of Medical Genetics, 47: 20-23, 1993

• Ashton-Prolla P, Felix TM. Say syndrome: a new case with cystic renal dysplasia in discordant monozygotic twins. American Journal of Medical Genetics, 70: 353-356, 1997

• Pagnan NAB, Ribeiro EM de SF, Poerner F. Say syndrome: report of a familial case. American Journal of Medical Genetics, 86: 165-167, 1999

• Martins F, Lopez Ortega K, Hiraoka C, et al. Oral and dental abnormalities in Barber-Say syndrome. American Journal of Medical Genetics, 152A: 2569-2573, 2010

• Marchegiani S, Davis T, Tessadori F, et al. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes. American Journal of Human Genetics, 97: 99-110, 2015