2017, Number 1
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Rev Mex Cir Bucal Maxilofac 2017; 13 (1)
Report of two cases of oculus-facio-cardio-dental (OFCD) syndrome in mother and daughter
Tiol MA, Maldonado ZN, Tiol CA, Esparza RN, García RE
Language: Spanish
References: 18
Page: 20-24
PDF size: 488.91 Kb.
ABSTRACT
The oculus-facio-cardio-dental syndrome is characterized by the following features: long, narrow face; eye defects as bilateral congenital cataracts, microphthalmia, glaucoma and vision loss; notch on the tip of the nose due to the disunity of the cartilages of the nostrils; cleft palate; cardiac abnormalities such as atrial septal defects and ventricular septal defects; radiculomegalia of the four canines (in some cases, this defect is also found in the first premolars); delayed tooth eruption and oligodontia; syndactyly of the second and third toes and flat feet.
REFERENCES
Obwegeser HL, Gorlin RJ. Oculo-facio-cardio-dental (OFCD) syndrome. Clin Dysmorphol. 1997; 6: 281-282.
Hayward JR. Cuspid gigantism. Oral Surg Med Oral Pathol. 1980; 49: 500-501.
Marashi AH, Gorlin RJ. Radiculomegaly of canine teeth and congenital cataracts: confirmation of a syndrome. Am J Med Genet. 1992; 42 (1): 143.
Wilkie AO, Taylor D, Scambler PJ, Baraitser M. Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome? Clin Dysmorphol. 1993; 2 (2): 114-119.
Aalfs CM, Oosterwijk JC, van Schooneveld MJ, Begeman CJ, Wabeke KB, Hennekam RC. Cataracts, radiculomegaly, septal heart defects and hearing loss in two unrelated adult females with normal intelligence and similar facial appearance: confirmation of a syndrome. Clin Dysmorphol. 1996; 5: 93-103.
Marashi AH, Gorlin RJ. Radiculomegaly of canines and congenital cataracts —a syndrome? Oral Surg Oral Med Oral Pathol. 1990; 70: 802-803.
Wilkie GJ, Chambers IG. A very large maxillary cuspid. Oral Surg Oral Med Oral Pathol. 1990; 70: 159-160.
Gorlin RJ, Marashi AH, Obwegeser HL. Oculo-facio-cardio-dental (OFCD) syndrome. Am J Med Genet. 1996; 63 (1): 290-292.
Schulze BR, Horn D, Kobelt A, Tariverdian G, Stellzig A. Rare dental abnormalities seen in oculo-facio-cardio-dental (OFCD) syndrome: three new cases and review of nine patients. Am J Med Genet. 1999; 82 (5): 429-435.
Hedera P, Gorski JL. Oculo-facio-cardio-dental syndrome: skewed X chromosome inactivation in mother and daughter suggest X-linked dominant inheritance. Am J Med Genet A. 2003; 123A (3): 261-66.
Türkkahraman H, Sarioğlu M. Oculo-facio-cardio-dental syndrome: report of a rare case. Angle Orthod. 2006; 76 (1): 184-186.
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 Oral Maxillofac Surg. 2006; 35 (11): 1060-1062.
Oberoi S, Winder AE, Johnston J, Vargervik K, Slavotinek AM. Case reports of oculofaciocardiodental syndrome with unusual dental findings. Am J Med Genet. 2005; 136A: 275-277.
Gorlin RJ. Otodental syndrome, oculo-facio-cardio-dental (OFCD) syndrome, and lobodontia: dental disorders of interest to the pediatric radiologist. Pediatr Radiol. 1998; 28 (10): 802-804.
Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK et al. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. Eur J Hum Genet. 2005; 13 (5): 563-569.
Altug-Atac AT. Oculofaciocardiodental syndrome and orthodontics. Am J Orthod Dentofacial Orthop. 2007; 131 (1): 83-88.
Barthelemy I, Samuels L, Kahn DM, Schendel SA. Oculo-facio-cardio-dental syndrome: two new cases. J Oral Maxillofac Surg. 2001; 59: 921-925.
Pace R, Giuliani V, Pagavino G. Endodontic management in oculo-facio-cardio-dental syndrome: a case report. J Endod. 2011; 37 (4): 558-561.