113
Views
4
CrossRef citations to date
0
Altmetric
Original Articles

Congenital Cranial Dysinnervation Disorders: A Literature Review

, O.C.(C.)

REFERENCES

  • Gutowski N, Chilton J: The congenital cranial dysinnervation disorders. Arch Disease Childhood. 2015; 100: 678–681.
  • Gutowski N, Bosley T, Engle E: 110th ENMC international workshop: The congenital cranial dysinnervation disorders (CCDDs). Naarden, the Netherlands, October, 2002. Neuromuscular Disorders, 2003; 13: 573–578.
  • Miller NR, Kiel SM, Green WR, Clark AW: Unilateral Duane's retraction syndrome (type 1). Arch Ophthalmol 1982; 100: 1468–1472.
  • Bosley TM, Abu-Amero KK, Oystreck DT: Congenital cranial dysinnervation disorders: A concept in evolution. Curr Opin Ophthalmol 2013; 24: 398–406.
  • Duane A: Congenital deficiency of abduction, associated with impairment of adduction, retraction movements, contraction of the palpebral fissure and oblique movements of the eye. Arch Ophthalmol 1996; 114: 1255–1256. Abridged from 1905, edited by C. Letocha.
  • Demer JL, Ortube MC, Engle EC, Thacker N: High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus. J AAPOS 2006; 10: 135–142.
  • Al-Baradie R, Yamada K, Hilaire CS, Chan W, Andrews C, McIntosh N, Okumura S: Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Gen 2002; 71: 1195–1199.
  • Bosley TM, Salih MA, Alorainy IA, Oystreck DT, Nester M, Abu-Amero KK, Engle EC: Clinical characterization of the HOXA1 syndrome BSAS variant. Neurology 2007; 69: 1245–1253.
  • Miyake N, Andrews C, Fan W, He W, Chan WM, Engle EC: CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome. Am J Med Genet A 2010; 152A:215–217. doi:10.1002/ajmg.a.33168
  • Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Engle EC: Homozygous mutations in ARIX (PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nature Genetics 2001; 29: 315–320.
  • Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Robertson RL: Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 2010; 140: 74–87.
  • Bosley TM, Salih MA, Jen JC, Lin DD, Oystreck D, Abu-Amero KK, Baloh RW: Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. Neurology 2005; 64: 1196–1203. doi:64/7/1196[pii]
  • Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, MacKinnon S: HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. Am J Med Genet 2012; 91: 171–179.
  • Ziter FA, Wiser WC, Robinson A: Three-generation pedigree of a Möbius syndrome variant with chromosome translocation. Arch Neurol 1977; 34: 437–442.
  • Slee JJ, Smart RD, Viljoen DL: Deletion of chromosome 13 in Möbius syndrome. J Med Genet 1991; 28: 413–414.
  • Pedraza S, Gamez J, Rovira A, Zamora A, Grive E, Raguer N, Ruscalleda J: MRI findings in Möbius syndrome: Correlation with clinical features. Neurology 2000; 55: 1058–1060.
  • Kaeser P, Brodsky MC: Fourth cranial nerve palsy and Brown syndrome: Two interrelated congenital cranial dysinnervation disorders? Curr Neurol Neurosci Rep 2013; 13: 1–7.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.