Oculofaciocardiodental sendrom (OFCD)

Kalıtsal - XLD

Gelişme geriliği

Kaşlar kalın-yay biçiminde

Kriptoftalmi

Mikroftalmi

Mikrokornea

Ptozis

Katarakt

Glokom

Burun ucu iki loblu

Kulak anomalileri

İşitme sorunları

Dar-uzun yüz yapısı

Filtrum uzun

Yarık damak

Uvula bifida

Diş kökleri kalın (özellikle kaninlerde) 

Mine defektleri

Oligodonti

Süpernümerer dişler

Taurodontism

Dişlerde sürme aksamaları

Kalpte septum defektleri

Mitral kapak prolapsusu

Kalp kapaklarında darlık

Skolyoz

Ayak başparmak anomalileri

Psikomotor gerilik

 

  • 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. American Journal of Medical Genetics, 82(5):429-435, 1999

  • Oberoi S, Winder AE, Johnston J, et al. Case reports of oculofaciocardiodental syndrome with unusual dental findings. American Journal of Medical Genetics A, 136A: 275-277, 2005 (Erratum: Am. J. Med. Genet. 139A: 54 only, 2005)

  • Tsukawaki H, Tsuji M, Kawamoto T, Ohyama K. Three cases of oculo-facio-cardio-dental (OFCD) syndrome. The Cleft Palate-Craniofacial Journal, 42(5):467-476, 2005

  • Horn D, Chyrek M, Kleier S, et al. Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome. European Journal of Human Genetics, 13(5):563-569, 2005

  • McGovern E, Al-Mudaffer M, McMahon C, et al. Oculo-facio-cardio-dental syndrome in a mother and daughter. International Journal of Oral & Maxillofacial Surgery, 35(11):1060-1062, 2006

  • Hilton E, Johnston J, Whalen S, et al. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. European Journal of Human Genetics, 17: 1325-1335, 2009

  • Lubinsky M, Kantaputra PN. Syndromes with supernumerary teeth. American Journal of Medical Genetics, 170A:2611–2616, 2016