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Xu, R. Oculofaciocardiodental Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4650 (accessed on 26 September 2026).
Xu R. Oculofaciocardiodental Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4650. Accessed September 26, 2026.
Xu, Rita. "Oculofaciocardiodental Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4650 (accessed September 26, 2026).
Xu, R. (2020, December 24). Oculofaciocardiodental Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4650
Xu, Rita. "Oculofaciocardiodental Syndrome." Encyclopedia. Web. 24 December, 2020.
Oculofaciocardiodental Syndrome
Edit

Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females.

genetic conditions

References

  1. Gorlin RJ, Marashi AH, Obwegeser HL. Oculo-facio-cardio-dental (OFCD)syndrome. Am J Med Genet. 1996 May 3;63(1):290-2.
  2. Hedera P, Gorski JL. Oculo-facio-cardio-dental syndrome: skewed X chromosomeinactivation in mother and daughter suggest X-linked dominant Inheritance. Am JMed Genet A. 2003 Dec 15;123A(3):261-6.
  3. Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A,Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K. Novelmutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet. 2005 May;13(5):563-9.
  4. McGovern E, Al-Mudaffer M, McMahon C, Brosnahan D, Fleming P, Reardon W.Oculo-facio-cardio-dental syndrome in a mother and daughter. Int J OralMaxillofac Surg. 2006 Nov;35(11):1060-2.
  5. Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW,Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, BardwellVJ, Black GC, Biesecker LG. Oculofaciocardiodental and Lenz microphthalmiasyndromes result from distinct classes of mutations in BCOR. Nat Genet. 2004Apr;36(4):411-6.
  6. Schulze BR, Horn D, Kobelt A, Tariverdian G, Stellzig A. Rare dentalabnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients. Am J Med Genet. 1999 Feb 19;82(5):429-35. Review.
  7. Tsukawaki H, Tsuji M, Kawamoto T, Ohyama K. Three cases ofoculo-facio-cardio-dental (OFCD) syndrome. Cleft Palate Craniofac J. 2005Sep;42(5):467-76.
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Update Date: 24 Dec 2020
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