title: Coloboma and anorectal malformations: a rare association with important clinical implications.
abstract: OBJECTIVE
  In a patient with an anorectal malformation (ARM), the presence of a coloboma is commonly associated with other serious anomalies.
  
  
  METHODS
  Our database and the world literature were reviewed searching for associated defects in patients with ARM and coloboma.
  
  
  RESULTS
  Of 2,482 ARMs in our database, 11 had coloboma (0.4%): 2 were females. No specific associated type of ARM was identified. Six patients were developmentally delayed. Eight had a cardiac anomaly (3 had TAPVR, 2 VSD, 3 ASD), five required a cardiac operation. Five had a gastrointestinal anomaly (3 malrotation, 1 biliary and 1 duodenal atresia). Six had eye and seven had ear anomalies. Five had a genetic abnormality. In the literature, 71 patients with ARM and coloboma were found: 65 % were females. 24% died prematurely. 74% were developmentally delayed. 70% had a cardiac malformation (35% had TAPVR, 38% required an operation). 57% had gastrointestinal anomalies (31% malrotation, 31 % biliary atresia, 17% Hirschsprung disease). Eye and ear anomalies were present in 80 and 97% of patients, respectively. 81% had a genetic abnormality.
  
  
  CONCLUSIONS
  An ocular inspection in patients born with ARM is crucial. The finding of a coloboma should increase awareness to evaluate for a developmental, cardiologic or gastrointestinal anomaly.
authors.affiliation: Colorectal Center for Children, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, ML 2023, Cincinnati, OH 45229, USA.
authors.forename: Giulia
authors.initials: G
authors.lastname: Brisighelli
authors.forename: Andrea
authors.initials: A
authors.lastname: Bischoff
authors.forename: Marc
authors.initials: M
authors.lastname: Levitt
authors.forename: Jennifer
authors.initials: J
authors.lastname: Hall
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Monti
authors.forename: Alberto
authors.initials: A
authors.lastname: Peña
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000601:surgery; D000071056:Anorectal Malformations; D001006:Anus, Imperforate / Q000175:diagnosis* / Q000601:surgery; D003103:Coloboma / Q000175:diagnosis* / Q000601:surgery; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male
references.citation: Ann Genet. 1981;24(1):51-3
references.pmid: 6971620
references.citation: Am J Hum Genet. 1994 Jul;55(1):134-42
references.pmid: 7912885
references.citation: Am J Dis Child. 1973 Jul;126(1):16-8
references.pmid: 4723166
references.citation: Clin Genet. 1972;3(4):226-48
references.pmid: 4262353
references.citation: Ann Genet. 1980;23(2):114-6
references.pmid: 6156636
references.citation: Am J Hum Genet. 1967 Sep;19(5):644-59
references.pmid: 6050738
references.citation: J Med Genet. 2002 Jan;39(1):16-22
references.pmid: 11826019
references.citation: Acta Paediatr Scand. 1972 Sep;61(5):581-6
references.pmid: 4626468
references.citation: J Med Genet. 1989 Mar;26(3):202-3
references.pmid: 2468773
references.citation: Lancet. 1965 Aug 7;2(7406):290
references.pmid: 14330081
references.citation: Hum Mutat. 2005 Sep;26(3):282
references.pmid: 16088922
references.citation: Arch Ophthalmol. 1974 Sep;92(3):259-62
references.pmid: 4212393
references.citation: J Pediatr Surg. 2007 Aug;42(8):1454-6
references.pmid: 17706516
references.citation: Am J Med Genet. 2002 Aug 1;111(2):230-1
references.pmid: 12210359
references.citation: J Med Genet. 1989 Oct;26(10):647-8
references.pmid: 2585462
references.citation: Am J Med Genet. 1986 Jul;24(3):543-5
references.pmid: 3728573
references.citation: Am J Med Genet A. 2006 Apr 15;140(8):804-12
references.pmid: 16523509
references.citation: Am J Ophthalmol. 1977 Oct;84(4):477-86
references.pmid: 410302
references.citation: Surv Ophthalmol. 2000 Nov-Dec;45(3):175-94
references.pmid: 11094243
references.citation: Ann Ocul (Paris). 1969 Oct;202(10):1021-31
references.pmid: 4983376
references.citation: Ann Genet. 1990;33(3):173-5
references.pmid: 2288463
references.citation: Pediatr Med Chir. 1997 Nov-Dec;19(6):469-71
references.pmid: 9595589
references.citation: Clin Genet. 1977 Nov;12(5):275-84
references.pmid: 412629
references.citation: Am J Med Genet A. 2012 May;158A(5):1111-7
references.pmid: 22495764
references.citation: Clin Genet. 1992 Aug;42(2):91-6
references.pmid: 1424237
references.citation: Am J Med Genet. 1995 Oct 23;59(1):68-75
references.pmid: 8849015
references.citation: Cytogenet Genome Res. 2012;138(1):5-10
references.pmid: 22890013
references.citation: J Pediatr Surg. 2010 Jun;45(6):1228-33
references.pmid: 20620325
references.citation: G Ital Cardiol. 1987 Jul;17(7):613-6
references.pmid: 3678713
references.citation: Hum Genet. 1981;57(2):148-58
references.pmid: 6785205
references.citation: Br Med J. 1971 Jul 3;3(5765):47-8
references.pmid: 5091903
references.citation: Ophthalmic Epidemiol. 2006 Jun;13(3):159-66
references.pmid: 16854769
references.citation: Am J Med Genet. 1987 Mar;26(3):621-8
references.pmid: 3105314
references.citation: Acta Ophthalmol. 2011 Mar;89(2):143-50
references.pmid: 20384607
references.citation: Am J Med Genet. 1988 Jan;29(1):9-19
references.pmid: 3344779
references.citation: Paediatr Anaesth. 2001 Nov;11(6):746-8
references.pmid: 11696158
references.citation: J Med Genet. 2003 May;40(5):e62
references.pmid: 12746416
references.citation: Klin Monbl Augenheilkd. 1971 Sep;159(3):357-67
references.pmid: 5003627
references.citation: Pediatr Radiol. 1984;14(6):441-2
references.pmid: 6504608
references.citation: Lancet. 1970 May 2;1(7653):949
references.pmid: 4191572
references.citation: Ann Genet. 1994;37(1):33-6
references.pmid: 8010712
references.citation: J Pediatr Surg. 2012 Dec;47(12):2273-8
references.pmid: 23217888
references.citation: J Genet Hum. 1967 Jun;16(1):89-96
references.pmid: 4232719
references.citation: Humangenetik. 1972;15(3):242-8
references.pmid: 5082091
references.citation: Genet Couns. 2004;15(4):443-8
references.pmid: 15658620
references.citation: Am J Hum Genet. 1995 Sep;57(3):667-73
references.pmid: 7668296
references.citation: Orphanet J Rare Dis. 2007 Jul 26;2:33
references.pmid: 17651510
references.citation: Br J Ophthalmol. 1974 Nov;58(11):917-21
references.pmid: 4457104
references.citation: J Pediatr. 1970 Apr;76(4):594-7
references.pmid: 5420796
references.citation: Rev Assoc Med Bras (1992). 2010 Jul-Aug;56(4):462-5
references.pmid: 20835645
references.citation: Arch Fr Pediatr. 1975 Nov;32(9):835-48
references.pmid: 1217955
references.citation: Humangenetik. 1975;26(4):271-89
references.pmid: 50268
references.citation: Am J Nephrol. 1994;14(1):76-9
references.pmid: 8017487
references.citation: Monatsschr Kinderheilkd. 1991 Apr;139(4):228-30
references.pmid: 2072964
references.citation: Am J Med Genet A. 2010 Apr;152A(4):1013-5
references.pmid: 20358618
references.citation: Lancet. 1970 Jul 11;1(7663):97
references.pmid: 4193380
references.citation: Eur J Med Genet. 2005 Jan-Mar;48(1):33-9
references.pmid: 15953404
references.citation: Genet Couns. 2001;12(1):23-34
references.pmid: 11332976
references.citation: Ann Genet. 1996;39(3):139-43
references.pmid: 8839885
references.citation: Arch Ophthalmol. 1973 Oct;90(4):287-91
references.pmid: 4746642
references.citation: Am J Med Genet. 2000 Sep 11;94(2):91-101
references.pmid: 10982965
references.citation: J Med Genet. 1981 Apr;18(2):108-18
references.pmid: 7241528
references.citation: Ophthalmology. 1998 Aug;105(8):1455-8
references.pmid: 9709757
references.citation: Curr Probl Surg. 2002 Jul;39(7):666-730
references.pmid: 12085018
references.citation: J Obstet Gynaecol. 2002 Nov;22(6):696
references.pmid: 12554278
references.citation: Pediatr Neurol. 2010 Feb;42(2):151-3
references.pmid: 20117756
references.citation: J Pediatr Surg. 2009 Jun;44(6):1278-83; discussion 1283-4
references.pmid: 19524754