C

 

Crouzon sendromu (craniofacial dysostosis)

Kalıtsal - AD

Kraniyosinostozis içeren çoğu sendromda saptanan 4 temel bulgu:

  1. Kraniyosinostozis (coronal-sagittal-lambdoid suturalar)

  2. Maksilla hipoplazisi (mikrognati)

  3. Aşırı sığ orbitalar

  4. Proptozis ve ekzoftalmi

Brakisefali

Hipertelorizm

Optik atrofi

Strabismus  

Gagamsı burun (papağan görünümü)

Prognatizm (altçene)

Maksilla hipoplazisi

Damak lateralinde tümsekler

Kısa damak (üstçene diş arkı kısa)

Üst 1. azılarda ektopik erüpsiyon

Maloklüzyon

Progressif hidrosefalus

İşitme sorunları

Servikal vertebra füzyonları

Ekstremiteler normal

 

  • Galvin BD, Hart KC, Meyer AN, et al. Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras. Proceedings of the National Academy of Sciences USA, 93(15):7894-7899, 1996

  • Kreiborg S, Cohen MM Jr. Is craniofacial morphology in Apert and Crouzon syndromes the same? Acta Odontologica Scandinavica, 56:339-341, 1998

  • Wong GB, Kakulis EG, Mulliken JB. Analysis of fronto-orbital advancement for Apert, Crouzon, Pfeiffer, and Saethre-Chotzen syndromes. Plastic & Reconstructive Surgery, 105:2314–2323, 2000

  • Kress W, Collmann H, Busse M, et al. Clustering of FGFR2 gene mutations in patients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenetics & Cell Genetics,  91:134–137, 2000

  • Carinci F, Pezzetti F, Locci P, et al. Apert and Crouzon syndromes: clinical findings, genes and extracellular matrix. Journal of Craniofacial Surgery, 16(3):361-368, 2005

  • Gray TL, Casey T, Selva D, et al. Ophthalmic sequelae of Crouzon syndrome. Ophthalmology, 112(6): 1129-1134, 2005

  • Fitzpatrick, D. R. Filling in the gaps in cranial suture biology. Nature Genetics, 45: 231-232, 2013

  • Bagheri-Fam S, Ono M, Li L, et al. FGFR2 mutation in 46,XY sex reversal with Craniosynostosis. Human Molecular Genetics, 24: 6699-6710, 2015