ABC | Volume 110, Nº1, Janeiro 2018

Artigo de Revisão Oliveira et al Associação de cardiopatias congênitas e alterações oftalmológicas Arq Bras Cardiol. 2018; 110(1):84-90 18. Ming JE, Russell KL, Bason L, McDonald-McGinnDM, Zackai EH. Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association. Am J MedGenet A. 2003;123A(3):249-52 doi:10.1002/ ajmg.a.20277 19. Butt Z, Dhillon B, McLean H. Central retinal artery occlusion in a patient with Marfan’s syndrome. Acta Ophthalmol (Copenh). 1992;70(2):281-4. PMID:1609581 20. Horiguchi T, Takeshita K. Neuropsychological developmental change in a case with Noonan syndrome: Longitudinal assessment. Brain Dev. 2003;25(4):291-3. http://dx.doi.org/10.1016/S0387-7604 (02)00227-9 21. Curry CJ, Carey JC, Holland JS, Chopra D, Fineman R, Golabi M, et al. Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditismand frequent early lethality. Am J MedGenet. 1987;26(1):45-57. doi:10.1002/ajmg.1320260110 22. Farra C, Yunis K, Mikati M, Yazbeck N, Majdalani M, Awwad J.Goldenhar syndrome associatedwith prenatal maternal Fluoxetine ingestion: Cause or coincidence? Birth Defects Res A Clin Mol Teratol. 2010;88(7):582-5. doi: 10.1002/bdra.20674. 23. Bosch-Banyeras JM, Zuasnabar A, Puig A, Catala M, Cuatrecasas JM. Poland-Möbius syndrome associated with dextrocardia. J Med Genet. 1998;21(1):70-1. doi:http/ /dx.doi.org/10.1136/jmg.21.1.70 24. Frank RA, Frosch PJ. Adams-Oliver syndrome: cutis marmorata teleangiectatica congenita with multiple anomalies. Dermatology. 1993;187(3):205-8. PMID:8219425 25. Kost S, Seidel H, Balling G, Hess J. Alstrom syndrome-a rare disease presenting with dilative cardiomyopathy and blindness - Two case reports. Cardiol Young. 21(Suppl. 1): S99. 26. Urban J, Toruniowa B, Janniger CK, Czelej D, Schwartz RA. Incontinentiapigmenti (Bloch-Sulzberger syndrome): multisystem disease observed in two generations. Cutis. 1996;58(5):329-36. PMID:8934072 27. Lindberg K, Brunvand L. Congenital mydriasis combined with aneurysmal dilatation of a persistent ductusarteriosusBotalli: A rare syndrome. Acta Ophthalmol Scand. 2005;83(4):508-9. doi:10.1111/j.1600- 0420.2005.004496.X 28. Kalpakian B, Choy AE, Sparkes RS. Duane syndrome associatedwith features of the cat-eye syndrome and mosaicism for a supernumerary chromosome probably derived from number 22. J Pediatr Ophthalmol Strabismus. 1988;25(6):293-7. doi: 10.3928/0191-3913-19881101-09. 29. Iord ă nescu C, DenislamD, AvramE, Chiru A, BusuiocM, Cioabl ă D. Ocular manifestations in progeria. Oftalmologia. 1995;39(1):56-7. Romanian. PMID:7539290 30. Russell-Eggitt IM, Taylor DS, Clayton PT, Garner A, Kriss A, Taylor JF. Leber’s congenital amaurosis--a new syndrome with a cardiomyopathy. Br J Ophthalmol. 1989;73(4):250-4. http:dx.doi.org/10.1136/bjo.73.4.250 31. Neuhäuser G, Opitz JM. Studies of malformation syndromes in man XXXX: multiple congenital anomalies/mental retardation syndrome or variant familial developmental pattern; differential diagnosis and description of the McDonough syndrome (with XXY son fromXY/XXY father). Z Kinderheilkd. 1975;120(4):231-42. PMID:1189520 32. Adam MP, Conta J, Bean LJH. Mowat-Wilson Syndrome. 2007 Mar 28 [Updated 2013 Nov 26]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2018. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1412/ PMID:20301585 33. Gorlin RJ. Otodental syndrome, oculo-facio-cardio-dental (OFCD) syndrome, and lobodontia: dental disorders of interest to the pediatric radiologist. Pediatr Radiol. 1998;28(10):802-4. doi:10.1007/ s002470050469 34. Hasselbeck C, Huber H, Wolferstetter E, Weber P, Schmid E, Markus S, et al. From clinics to genetics: A novel stop mutation in exon 2 of the SALL4 gene causing clinical Townes-Brocks or atypical Okihiro syndrome. Med Genet.23:146-7. 35. Kondoh T, Okamoto N, Norimatsu N, Uetani M, Nishimura G, Moriuchi H. A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. J Hum Genet 2007;52(4):370-3. doi:10.1007/s10038-007-0108-7 36. Hanna NN, Eickholt K, Agamanolis D, Burnstine R, Edward DP. Atypical Peters plus syndrome with new associations. J AAPOS. 2010;14(2):181-3. doi: 10.1016/j.jaapos.2010.02.003. 37. Bajaj A, Dyke P, Zaleski C, Cava J, McPherson E. Tessier No. 7 cleft with PHACE syndrome: The case for pulmonary vascular steal. Am J Med Genet A. 2011;155A(9):2298-301. doi: 10.1002/ajmg.a.34166. 38. Scalais E, Verloes A, Sacré JP, Piérard GE, Rizzo WB. Sjogren-Larsson- like syndrome with bone dysplasia and normal fatty alcohol NAD(+) oxidoreductase activity. Pediatr Neurol. 1992;8(6):459-65. PMID:1476577 39. Vilela MA, Sbruzzi G, Pellanda LC. Prevalence of ophthalmological abnormalities in children and adolescents with CHD: systematic review and meta-analysis of observational studies. Cardiol Young. 2016;26(3):477-84. doi: 10.1017/S104795111500044X 40. Nisli K. Prevalence of congenital heart defects in patients with Down’s syndrome. J Pediatr (Rio J). 2009;85(5):377-8. doi:10.2223/JPED.1940. Este é um artigo de acesso aberto distribuído sob os termos da licença de atribuição pelo Creative Commons 90