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Oral-Facial-Digital sendrom II

Orofaciodigital sendrom 2, Mohr sendromu; Mohr-Claussen sendromu

Kalıtsal - AR

Gelişme geriliği

Hipertelorizm

Burun ucu iki loblu

İşitme sorunları

Maksilla hipoplazisi (mikrognati)

Yarık dil

Dilde lobülasyon

Dil sırtında hamartomatöz oluşum (yağ dokusu)

Çok sayıda frenulum

Yarık üst dudak (orta çizgi yarığı)

Yarık damak

Hipodonti (kesici dişler)

Skolyoz

Parmak anomalileri

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

  • Prpić I, Cekada S, Franulović J. Mohr syndrome (oro-facial-digital syndrome II)--a familial case with different phenotypic findings. Clinical Genetics, 48(6):304-307, 1995

  • 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

  • Panigrahi I, Das RR, Kulkarni KP, Marwaha RK. Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. Clinical Dysmorphology, 22(3):109-114, 2013

  • Panigrahi I, Das RR, Kulkarni KP, Marwaha RK. Overlapping phenotypes in OFD type II and OFD type VI: report of two cases. Clinical Dysmorphology, 22: 109-114, 2013

  • Rhouma A, Horneff G. Mohr-Claussen syndrome or oro-facial-digital syndrome (OFDS) type-II. Klinische Pädiatrie, 226(2):78-79, 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