References
- Summers KM, Nataatmadja M, Xu D, et al. Histopathology and fibrillin-1 distribution in severe early-onset Marfan syndrome. Am J Med Genet A. 2005;139(1):2–8.
- Attanasio M, Lapini I, Evangelisti L, et al. FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. Clin Genet. 2008;74(1):39–46.
- Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476–485.
- Collod-Béroud G, Le Bourdelles S, Ades L, et al. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat. 2003;22(3):199–208.
- Koenigsberg M, Factor S, Cho S, et al. Fetal Marfan syndrome: prenatal ultrasound diagnosis with pathological confirmation of skeletal and aortic lesions. Prenat Diagn. 1981;1(4):241–247.
- Hennekam RC. Severe infantile Marfan syndrome versus neonatal Marfan syndrome. Am J Med Genet A. 2005;139(1):1.
- Shinawi M, Boileau C, Brik R, et al. Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia. Pediatr Pulmonol. 2005;39(4):374–378.
- Foundation TM, The Marfan Foundation. 2018s. Available from: http://www.marfan.org.
- Liberati A, Altman DG, Tetzlaff J, et al. The Prisma statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration. PLOS Med. 2009;6(7):e1000100.
- Chaoui R, Bollmann R, Göldner B, et al. Fetal cardiomegaly: echocardiographic findings and outcome in 19 cases. Fetal Diagn Ther. 1994;9(2):92–104.
- Lopes LM, Cha SC, de Moraes EA, et al. Echocardiographic diagnosis of fetal Marfan syndrome at 34 weeks’ gestation. Prenat Diagn. 1995;15(2):183–185.
- Wang M, Kishnani P, Decker-Phillips M, et al. Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome. J Med Gen. 1996;33(9):760–763.
- Ng DK, Chau KW, Black C, et al. Neonatal Marfan syndrome: a case report. J Paediatr Child Health. 1999;35(3):321–323.
- Lopes KR, Delezoide AL, Baumann C, et al. Prenatal Marfan syndrome: report of one case and review of the literature. Prenat Diagn. 2006;26(8):696–699.
- Ramaswamy P, Lytrivi ID, Nguyen K, et al. Neonatal Marfan syndrome: in utero presentation with aortic and pulmonary artery dilatation and successful repair of an acute flail mitral valve leaflet in infancy. Pediatr Cardiol. 2006;27(6):763–765..
- Stadié R, Geipel A, Heep A, et al. Prenatal diagnosis of Marfan syndrome. Ultrasound Obstet Gynecol. 2007;30(1):119–121.
- Sutherell J, Zarate Y, Tinkle BT, et al. Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition. Congenit Heart Dis. 2007;2(5):342–346.
- Barnett CP, Wilson GJ, Chiasson DA, et al. Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene. Am J Med Genet A. 2010;152A(9):2409–2412.
- Chao SC, Chen JS, Tsai CH, et al. Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome. Clin Genet. 2010;77(5):453–463.
- Gavilán C, Herraiz I, Granados MA, et al. Prenatal diagnosis of neonatal Marfan syndrome. Prenat Diagn. 2011;31(6):610–613.
- Herman TE, Siegel MJ, Mathur A, et al. Neonatal Marfan syndrome with hiatus hernia and intrathoracic stomach. J Perinatol. 2013;33(8):652–653.
- Hawkins M, Alcalde A, Yebra J, et al. Marfan neonatal syndrome: a case report. 53rd Annual Meeting of the European Society for Paediatric Endocrinology (ESPE). Dublin, Ireland, September 18–20, 2014: Abstracts. Horm Res Paediatr. 2014;82(Suppl 1):1–508.
- Maeda J, Kosaki K, Shiono J, et al. Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24–32. Heart Vessels. 2016;31(10):1717–1723.
- Nazarali S, Nazarali SA, Antoniuk A, et al. Childhood glaucoma in neonatal Marfan syndrome resulting from a novel FBN1 deletion. Can J Ophthalmol. 2017;52(5):e171–e173.
- Lönnqvist L, Karttunen L, Rantamäki T, et al. A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome. Genomics. 1996;36(3):468–475.
- Bresters D, Nikkels PG, Meijboom EJ, et al. Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome. Acta paediatr. 1999;88(1):98–101.
- Jacobs AM, Toudjarska I, Racine A, et al. A recurring FBN1 gene mutation in neonatal Marfan syndrome. Arch Pediatr Adolesc Med. 2002;156(11):1081–1085.
- Revencu N, Quenum G, Detaille T, et al. Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature. Eur J Pediatr. 2004;163(1):33–37.
- Tekin M, Cengiz FB, Ayberkin E, et al. Familial neonatal Marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene. Am J Med Genet A. 2007;143A(8):875–880.
- Hugger C, Kühn T, Niethammer K, et al. P03.13: Neonatal Marfan syndrome. Ultrasound Obstet Gynecol. 2009;34(S1):190–190.
- Laus F, Juliano C, Cabral V. Congenital Marfan syndrome leading to early neonatal death: autopsy case report: 598. Histopathology. 2010;57(Sup 1):215–216.
- Brito-Filho SL, Oporto V, Campos O, et al. A case of neonatal Marfan syndrome with good late follow-up: is it possible to avoid an early unfavourable outcome? Cardiol Young. 2013;23(2):301–303.
- Ghandi Y, Zanjani KS, Mazhari-Mousavi SE, et al. Neonatal Marfan syndrome: report of two cases. Iran J Pediatr. 2013;23(1):113–117.
- Eayrs K, Shettihalli N, Adwani S. Down syndrome masked by Marfan syndrome in a neonate. BMJ Case Rep. 2013;2013:1–3.
- Elshershari H, Harris C. Paternal fibrillin-1 mutation transmitted to an affected son with neonatal Marfan syndrome: the importance of early recognition. Cardiol Young. 2014;24(4):735–738.
- Amado M, Calado MA, Ferreira R, et al. Neonatal Marfan syndrome: a successful early multidisciplinary approach. BMJ Case Rep. 2014;2014:1–4.
- Daskalaki A, Kapsambeli H, Sideri B, et al. A new variant of Marfan syndrome in a neonate. Case report and review of the literature. Invited Lectures. J Maternfetal Neonat Med. 2014;27(Suppl. 1):1–437.
- Sípek A, Jr., Grodecká L, Baxová A, et al. Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome. Am J Med Genet A. 2014;164A(6):1559–1564.
- Sureka D, Stheneur C, Odent S, et al. A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome. J Pediatr Genet. 2014;3(3):157–162.
- Ozyurt A, Baykan A, Argun M, et al. Early onset Marfan syndrome: atypical clinical presentation of two cases. Balkan J Med Genet. 2015;18(1):71–76.
- Kishore S, Kumar P, Bhutia E, et al. Marfan syndrome with huge dilatation of the aortic root in early infancy. Poster and case report presentations. Echocardiography. 2015;32:A16–A69.
- Kale Y, Isik DU, Celik U, et al. Neonatal Marfan syndrome with angle-closure glaucoma, tricuspid and mitral insufficiency. Genet Couns. 2015;26(1):95–98.
- Le Gloan L, Hauet Q, David A, et al. Neonatal Marfan syndrome: report of a case with an inherited splicing mutation outside the neonatal domain. Mol Syndromol. 2016;6(6):281–286.
- Peng Q, Deng Y, Yang Y, et al. A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum. BMC Pediatr. 2016;16:60.
- Heo JS, Song JY, Choi EY, et al. Atypical neonatal Marfan syndrome with p.Glu1073Lys mutation of FBN1: the first case in Korea. J Korean Med Sci. 2017;32(1):1–3.
- Carande EJ, Bilton SJ, Adwani S. A case of neonatal Marfan syndrome: a management conundrum and the role of a multidisciplinary team. Case Rep Pediatr. 2017;2017:8952428.
- ubbard AM, Crombleholme TM, Adzick NS, et al. Prenatal MRI evaluation of congenital diaphragmatic hernia. Am J Perinatol. 1999;16(8):407–413.