Oral-Facial-Digital sendrom I
Orofaciodigital sendrom 1 (OFD I)
Papillon-Léage sendromu
Psaume sendromu
Kalıtsal - XLD
Kız çocuklarında görece sık
Erkek fetüslerde intauterin ölüm (kalp ve beyin anomalileri)
Gelişme geriliği
Mikrosefali
Hipertelorizm
Alın bombesi yüksek
Saçlarda yerel dökülmeler
Burun kanatları hipoplazisi
İşitme sorunları
Asimetrik yüz
Mikrognati
Retrognati
Alveol kretleri kalın
Üst dudak orta çizgi yarığı
Altçene yarığı
Damak yarığı
Yarık dil
Hipodonti (lateral kesiciler eksik)
Süpernümerer kaninler ve küçükazılar
Kaninlerde malpozisyonlar
Dilde lobülasyon
Dilde hamartomatöz oluşumlar (nodüller)
Dilde lipoma
Ankyloglossia
Dişetine uzanan frenulumlar
Gingival hiperplazi
Mine hipoplazisi
Yaygın diş çürükleri
Karaciğer ve safra yolları patolojileri
Pankreas kistleri
Polikistik böbrek hastalığı
Ovaryum kistleri
Parmak anomalileri
Beyin anomalileri (intraserebral kistler, corpus callosum agenezi, serebellum agenezi/Dandy-Walker malformasyonu)
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Baraitser M. The orofaciodigital (OFD) syndromes. Journal of Medical Genetics, 23(2):116-119, 1986
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Toriello HV. Oral-facial-digital syndromes. Clinical Dysmorphology, 2: 95-105, 1993
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al-Qattan MM. Cone-shaped epiphyses in the toes and trifurcation of the soft palate in oral-facial-digital syndrome type-I. British Journal of Plastic Surgery, 51:476–479, 1998
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Nowaczyk MJ, Zeesman S, Whelan DT, et al. Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification. American Journal of Medical Genetics, 123A(2):179-182, 2003
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Thauvin-Robinet C, Cossée M, Cormier-Daire V, et al. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. Journal of Medical Genetics, 43(1):54-61, 2006
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Gurrieri F, Franco B, Toriello H, Neri G. Oral-facial-digital syndromes: review and diagnostic guidelines. American Journal of Medical Genetics, 143A(24): 3314-3323, 2007
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Prattichizzo C, Macca M, Novelli V, et al. Oral-Facial-Digital Type I (OFDI) Collaborative Group. Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Human Mutation, 29(10):1237-1246, 2008
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Siebert JR. The oral-facial-digital syndromes. Handbook of Clinical Neurology, 87:341-351, 2008
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Macca M, Franco B. The molecular basis of oral-facial-digital syndrome, type 1. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 151C(4):318-325, 2009
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Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011
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Bisschoff IJ, Zeschnigk C, Horn Det al. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability. Human Mutation, 34:237–247, 2013
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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