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)

 

  • Baraitser M. The orofaciodigital (OFD) syndromes. Journal of Medical Genetics, 23(2):116-119, 1986

  • Toriello HV. Oral-facial-digital syndromes. Clinical Dysmorphology, 2: 95-105, 1993

  • 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

  • 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 

  • 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

  • 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

  • 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

  • Siebert JR. The oral-facial-digital syndromes. Handbook of Clinical Neurology, 87:341-351, 2008

  • 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

  • Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

  • 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

  • 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