B

 

Bohring-Opitz sendromu (Oberklaid-Danks sendromu)

Kalıtsal - AD

C sendromunun fenotipi

Mikrosefali

Trigonosefali

Bitemporal boyut kısa (uzun yüz)

Hipertelorizm

Ekzoftalmi

Strabismus

Görme bozuklukları

Yüzde aşırı kıllanma

Retrognati

Mikrognati

Yarık dudak

Çukur damak

Yarık damak

Nevus flammeus

Postür bozuklukları

Yüksek infeksiyon riski

Kalp ve ürogenital anomaliler

Ekstremite anomalileri

Zeka geriliği

Çocukluk çağı ölüm riski

 

  • Bohring A, Oudesluijs GG, Grange DK, et al. New cases of Bohring-Opitz syndrome, update, and critical review of the literature. American Journal of Medical Genetics A, 140A(12):1257-1263, 2006

  • Osaki M, Makita Y, Miura J, et al.  . A Japanese boy with apparent Bohring-Opitz or 'C-like' syndrome; (Letter). American Journal of Medical Genetics A, 140A: 897-899, 2006

  • Hoischen A, van Bon BWM, Rodriguez-Santiago B, et al. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nature Genetics, 43: 729-731, 2011

  • Hastings R, Cobben J-M., Gilessen-Kaesbach G, et al. Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis. European Journal of Human Genetics, 19(5): 513–519, 2011

  • Russell B, Johnston JJ, Biesecker LG, et al. Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. American Journal of Medical Genetics A, 167A(9):2122-2131, 2015