References
- Happ H, Schilter KF, Weh E, Reis LM, Semina Ev. 8q21.11 microdeletion in two patients with syndromic peters anomaly. Am J Med Genet a. 2016;170(9):2471–75. doi:10.1002/ajmg.a.37840.
- Palomares M, Delicado A, Mansilla E, de Torres ML, Vallespín E, Fernandez L, Martinez-Glez V, García-Miñaur S, Nevado J, Simarro FS, et al. Characterization of a 8q21.11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype. Am J Hum Genet. 2011;89(2):295–301. doi:10.1016/j.ajhg.2011.06.012.
- Srinivasan B, Shreeram Choudhari N, Neog A, Latka S, Iyer GK. Boston keratoprosthesis and Ahmed glaucoma valve for visual rehabilitation in congenital anterior staphyloma. Indian J Ophthalmol. 60(3):232–33. doi:10.4103/0301-4738.95883.
- Schanzlin DJ, Robin JB, Erickson G, Lingua R, Minckler D, Pickford M. Histopathologic and ultrastructural analysis of congenital corneal staphyloma. Am J Ophthalmol. 1983;95(4):506–14. doi:10.1016/0002-9394(83)90273-8.
- Ramappa M, Gandhi U, Chaurasia S, Kabra M, Kaur I, Mittal R, Mishra DK, Chakrabarti S, Edward DP. Peters anomaly in Nail-Patella syndrome: a case report and clinico-genetic correlation. Cornea. 2021 Nov 1;40(11):1487–90. doi:10.1097/ICO.0000000000002731.
- Miller MM, Butrus S, Hidayat A, Wei LL, Pontigo M. Corneoscleral transplantation in congenital corneal staphyloma and Peters’ anomaly. Ophthalmic Genet. 2003;24(1):59–63. doi:10.1076/OPGE.24.1.59.13891.
- Salour H, Owji N, Sadeghipour A. Congenital corneal staphyloma. J Ophthalmic Vis Res. 2009 Jul;4(3):182–84. PMID: 23198071; PMCID: PMC3498567
- Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SFA, Hakonarson H, Bucan M. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res. 2007;17(11):1665–74. doi:10.1101/GR.6861907.
- Li S, Wu W, Xie J, Li H. Clinical characterization and genetic analysis of a newborn with chromosome 8q21.11 deletion syndrome. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Feb 10;38(2):145–49. Chinese. doi:10.3760/cma.j.cn511374-20191224-00657.
- Belligni EF, Hennekam RCM. Familial occurrence of ptosis, nasal speech, prominent ears, hand anomalies and learning problems. Eur J Med Genet. 2010;53(4):192–96. doi:10.1016/J.EJMG.2010.03.009.
- Vulto-van Silfhout AT, Hehir-Kwa JY, van Bon BW, Schuurs-Hoeijmakers JH, Meader S, Hellebrekers CJ, Thoonen IJ, de Brouwer AP, Brunner HG, Webber C, et al. Clinical significance of De Novo and inherited copy-number variation. Human Mutation. 2013;34(12):1679–87. doi:10.1002/humu.22442.
- Hofmann K, Becker J, Heller R, Boute O, Andrieux J, Hoyer J, Ekici AB, Reis A, Rauch A. 7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). Eur J Med Genet. 2011;54(5). doi:10.1016/J.EJMG.2011.06.002.
- Quintela I, Barros F, Castro-Gago M, Carracedo A, Eiris J. Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome. Am J Med Genet a. 2015;167(6):1369–73. doi:10.1002/ajmg.a.37038.
- Fontana P, Ginevrino M, Bejo K, Cantalupo G, Ciavarella M, Lombardi C, Maioli M, Scarano F, Costabile C, Novelli A, et al. A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype. Eur J Med Genet. 2021;64(11):104321. doi:10.1016/j.ejmg.2021.104321.
- Ben Ayed I, Bouzid A, Kammoun F, Souissi A, Jallouli O, Mallouli S, Guidara S, Loukil S, Aloulou H, Jbeli F, et al. 8q21.11 microdeletion syndrome: delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects. Mol Genet Genomic Med. 2021;9(11). doi:10.1002/MGG3.1811.
- Lunardelli P, Matayoshi S. Congenital Anterior Staphyloma. J Pediatr Ophthalmol Strabismus. 2009;54:393–95. doi:10.3928/01913913-20090616-09.
- Agarwal A, Jacob S, Prakash G, Kumar DA, Nair V, Agarwal A. Anterior segment transplantation with a novel biosynthetic graft. Eye Contact Lens. 2010;36(2):130–36. doi:10.1097/ICL.0B013E3181CD1B14.
- Moon JK, Ho KC, Nam JK, Sang IK. Congenital corneal staphyloma treated by evisceration and primary implant placement: 3 cases. Can J Ophthalmol. 2008;43(1):111–13. doi:10.3129/I07-183.
- Alallah J, Mohtisham F, Khan Z. Spontaneous bilateral corneal perforation in a neonate: a case report. Int J Pediatr Adolesc Med. 2020;7(1):53–55. doi:10.1016/J.IJPAM.2019.06.001.
- Sonksen PM, Dale N. Visual impairment in infancy: impact on neurodevelopmental and neurobiological processes. Dev Med Child Neurol. 2007;44(11):782–91. doi:10.1017/S0012162201002936.