International Journal of Pediatric Otorhinolaryngology Extra
Volume 4, Issue 3 , Pages 118-122 , September 2009

Type VIII oral–facial–digital syndrome. A rare case series of a forgotten syndrome subtype

Received 15 May 2008 ,Revised 11 September 2008 ,Accepted 16 September 2008.

References 

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  2. Gurrieri Fiorella, Franco Brunella. Oral–facial–digital syndromes: review and diagnostic guidelines. Am. J. Med. Genet. Part A. 2007;143A(24):3314–3323
  3. Gorlin R, Psauma J. Oro-Digito-Facial dysostosis—a new syndrome. J. Pediatr. 1962;61:520–530
  4. Edwards M, Mulcahy D, Turner G. X-linked recessive inheritance of an orofacial digital syndrome with partial expression in females and survival of affected males. Clin. Genet. 1988;34:325–332
  5. Gurrieri F, Sammito V, Ricci B. Possible new type of Oral–Facial–Digital Syndrome with retinal abnormalities: OFDS Type (VIII). Am. J. Med. Genet. 1992;42:789–792
  6. Toriello HV. Oral–Facial–Digital syndromes. Clin. Dysmorphol. 1993;2:95–105
  7. Franco B, Ballabio A. X-inactivation and human disease: X-linked dominant male-lethal disorders. Curr. Opin. Genet. Dev. 2006;16(3):254–259
  8. Matheny M, Hall B, Manaligod JM. Otolaryngologic aspects of oral–facial–digital syndrome. Int. J. Pediatr. Otorhinolaryngol. 2000;53(1):39–44Jun 9
  9. Thauvin-Robinet C, Cossee M, Cormier-Daire V, Van Maldergem L, Toutain A, Alembik Y, 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. J. Med. Genet. 2006;43:54–61

PII: S1871-4048(08)00068-3

doi: 10.1016/j.pedex.2008.09.005

International Journal of Pediatric Otorhinolaryngology Extra
Volume 4, Issue 3 , Pages 118-122 , September 2009