Oral-Facial-Digital sendrom VI (orofaciodigital sendrom 6, OFD VI; Varadi-Papp sendromu; Varadi sendromu)

Kalıtsal - AR

Gelişme geriliği

Hipertelorizm

Mikrognati

Çok sayıda frenulum

Dilde hamartomatöz oluşumlar

Sublingual nodüller

Yarık dudak (orta çizgi)

Çukur damak

Yarık damak

Polidaktili

Böbrek ve kalp anomalileri

Serebellum vermis hipoplazisi

Hipotoni

Zeka geriliği

 

  • Münke M, McDonald DM, Cronister A, Stewart JM, Gorlin RJ, Zackai EH. Oral-facial-digital syndrome type VI (Varadi syndrome): further clinical delineation. American Journal of Medical Genetics, 35:360–369, 1990

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

  • Stephan MJ, Brooks KL, Moore DC, et al. Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Varadi syndrome). American Journal of Medical Genetics, 51(2):131-136, 1994

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

  • Panigrahi I, Das RR, Kulkarni KP, Marwaha RK. Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. Clinical Dysmorphology, 22: 109-114, 2013

  • Panigrahi I, Das RR, Kulkarni KP, Marwaha RK. Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. Clinical Dysmorphology, 22(3):109-114, 2013

  • Lopez E, Thauvin-Robinet C, Reversade B, et al. C5orf42 is the major gene responsible for OFD syndrome type VI. Human Genetics, 133: 367-377, 2014

  • 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