title: Atypical Neonatal Marfan Syndrome with p.Glu1073Lys Mutation of FBN1: the First Case in Korea.
abstract: Neonatal Marfan syndrome (nMFS) is considered to be on the most severe end of the spectrum of type I fibrillinopathies. The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled ear, loose skin, and pulmonary emphysema.We describe a newborn male diagnosed with nMFS. He presented several atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna. Molecular analysis revealed a missense mutation at nucleotide 3217 (c.3217G>A) in exon 26 of the fibrillin-1 (FBN1) gene, resulting in the substitution of a glutamate for a lysine at codon 1073 (E1073K) in the 12th calcium binding epidermal growth factor-like domain of the FBN1 protein. Here we report a rare case of Nmfs with several combined atypical features, such as diaphragmatic eventration, severe hydronephrosis with hydroureter, and dilated cisterna magna. Our report is the first atypical nMFS case with p.Glu1073Lys mutation of FBN1 in Korea and may help clinicians with the diagnosis and follow-up of atypical nMFS.
authors.affiliation: Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors.forename: Ju Sun
authors.identifier: http://orcid.org/0000-0001-8928-289X
authors.initials: JS
authors.lastname: Heo
authors.affiliation: Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors.forename: Joo Young
authors.identifier: http://orcid.org/0000-0002-8635-8681
authors.initials: JY
authors.lastname: Song
authors.affiliation: Department of Pediatrics, Sejong General Hospital, Bucheon, Korea.
authors.forename: Eun Young
authors.identifier: http://orcid.org/0000-0001-5936-9388
authors.initials: EY
authors.lastname: Choi
authors.affiliation: Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors.forename: Eun Hee
authors.identifier: http://orcid.org/0000-0003-3143-9545
authors.initials: EH
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors.forename: Ji Hee
authors.identifier: http://orcid.org/0000-0001-6950-3982
authors.initials: JH
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea.
authors.forename: So Eun
authors.identifier: http://orcid.org/0000-0003-0647-2597
authors.initials: SE
authors.lastname: Park
authors.affiliation: Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea. goddaugh@chamc.co.kr.
authors.forename: Ji Hyun
authors.identifier: http://orcid.org/0000-0002-4512-2728
authors.initials: JH
authors.lastname: Jeon
mesh_terms: D001011:Aorta / Q000000981:diagnostic imaging; D044466:Asian People / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging; D004452:Echocardiography; D005091:Exons; D000071838:Fibrillin-1 / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D056910:Republic of Korea; D014463:Ultrasonography
chemical_list: D000071838:Fibrillin-1
keywords: Cisterna Magna; Diaphragmatic Eventration; Hydronephrosis; Marfan Syndrome; Neonate