Cranial Dysinnervation Disorders with Strabismus and Arthrogryposis
Search For A Disorder
References
Khan AO, Shaheen R, Alkuraya FS. The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder. J AAPOS. 2014 Aug;18(4):362-7.
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet. 2014 May 1;94(5):734-44.
Beals RK, Weleber RG. Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia. Am J Med Genet A. 2004 Nov 15;131(1):67-70. PubMed PMID: 15389706.
Sahni J, Kaye SB, Fryer A, Hiscott P, Bucknall RC. Distal arthrogryposis type IIB: unreported ophthalmic findings. Am J Med Genet A. 2004 May 15;127A(1):35-9.
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis. C T Schrander-Stumpel, C J Howeler, A D Reekers, N M De Smet, J G Hall, J P Fryns J Med Genet. 1993 January; 30(1): 78–80.