Oral-Facial-Digital sendrom V

Oral-Facial-Digital sendrom V (orofaciodigital sendrom 5, OFD V, Thurston sendromu), 11 fenotipi olan orofaciodigital sendromlar kümesinin elemanıdır. Hindistan’da görece sık görülen, otosomal resesif yolla aktarılan kalıtsal bir sendromdur.[1][2] Hipertelorizm, üst dudak vermilion yarığı, dilde lobülasyon, polidaktili ve zeka geriliği başlıca bulgulardır.[3][4]

Kaynakça

Naikmasur VG, Rai A, Revanappa MM, Mutalik S. Thurston syndrome: oral and systemic manifestations. Case report and review of the literature. Quintessence International, 41(4):e75-79, 2010
Bruel A-L, Franco B, Duffourd Y, et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics, 54: 371-380, 2017
Gorlin RJ, Cohen MM Jr, Hennekam RC. Syndromes of the Head and Neck. 4th ed., Oxford University Press, New York, 2001
Shamseldin HE, Rajab A, Alhashem A, et al. Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. American Journal of Human Genetics, 555-560, 2013

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.

[1] Naikmasur VG, Rai A, Revanappa MM, Mutalik S. Thurston syndrome: oral and systemic manifestations. Case report and review of the literature. Quintessence International, 41(4):e75-79, 2010

[2] Bruel A-L, Franco B, Duffourd Y, et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Journal of Medical Genetics, 54: 371-380, 2017

[3] Gorlin RJ, Cohen MM Jr, Hennekam RC. Syndromes of the Head and Neck. 4th ed., Oxford University Press, New York, 2001

[4] Shamseldin HE, Rajab A, Alhashem A, et al. Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome. American Journal of Human Genetics, 555-560, 2013