OÖ

 

Oral-Facial-Digital sendrom  IV (orofaciodigital sendrom 4, OFD IV, Mohr-Majewski sendromu; Baraitser-Burn sendromu)

Kalıtsal - AR

Hipertelorizm

Basık burun

Mikrognati

Oligodonti

Yarık dudak

Yarık damak

Uvula bifida

Çok sayıda frenulum

Dilde lobülasyon

Dilde hamartomatöz oluşum

Epiglot anomalileri

Polisindaktili

Tibia displazisi

Kısa kostalar

Kistik böbrekler

Oksipital ensefalosel

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

• Haug K, Khan S, Fuchs S, König R. OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. American Journal of Medical Genetics, 91(2):135-137, 2000

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

• Rosing B, Kempe A, Berg C, et al. Orofaciodigital syndrome -Type IV (Mohr-Majewski): early prenatal diagnosis in siblings. Ultrasound in Obstetrics and Gynecology, 31(4): 457– 460, 2008

• Thomas S, Legendre M, Saunier S, et al. TCTN3 mutations cause Mohr-Majewski syndrome. American Journal of Human Genetics, 91: 372-378, 2012

• Özdemir-Karatas M, Özdemir-Özenen D, Hart PS, Hart TC. Craniodentofacial manifestations in a rare syndrome: Orofaciodigital type IV (Mohr-Majewski Syndrome). Case Reports in Dentistry, Article ID 605892 (5 pages), 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

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