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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아알레르기호흡기학회 Allergy Asthma & Respiratory Diseases Allergy Asthma & Respiratory Diseases 제9권 제1호
- 발행연도
- 2021.1
- 수록면
- 42 - 45 (4page)
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초록· 키워드
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Severe respiratory difficulty can be more prominent, when combined with severe pectus excavatum and cardiovascular manifestations in infants with Marfan syndrome. There have been few reports on severe laryngomalacia as a cause of severe respiratory difficulty in an infant with Marfan syndrome. A 1-month-old boy was admitted due to severe respiratory difficulty. Immediately after birth, he had dysmorphic features, such as micrognathia, wrinkles on the forehead, and down-slanting palpebral fissures. On echocardiography, aortic root dilation with a mitral valve prolapse was observed. Due to severe laryngomalacia accompanied by severe respiratory difficulty and feeding difficulty, a partial epiglottectomy was performed at 1 month of age. After the surgery, suprasternal retraction and inspiratory stridor disappeared, and he started gaining weight with improvement in respiratory difficulty. On whole exome sequencing, a missense mutation on the FBN1 gene (c.3560A>C on exon 29, p.His1187Pro, calcium-binding epidermal growth factor-like #21) was identified. Despite higher perioperative risk due to comorbidities in Marfan syndrome, early intervention of laryngomalacia can be helpful in improving quality of life even in infants with Marfan syndrome.
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참고문헌 (8)
참고문헌 신청
Judge DP / 2005 / Marfan's syndrome / Lancet 366:1965~1976
Seo GH / 2018 / The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums / Medicine(Baltimore) 97:e10767
Faivre L / 2009 / Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations / Pediatrics 123:391~398
Loeys BL / 2010 / The revised Ghent nosology for the Marfan syndrome / J Med Genet 47:476~485
Groth KA / 2015 / Prevalence, incidence, and age at diagnosis in Marfan Syndrome / Orphanet J Rare Dis 10:153
Seo GH / 2018 / The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums / Medicine(Baltimore) 97:e10767
Faivre L / 2009 / Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations / Pediatrics 123:391~398
Loeys BL / 2010 / The revised Ghent nosology for the Marfan syndrome / J Med Genet 47:476~485
Groth KA / 2015 / Prevalence, incidence, and age at diagnosis in Marfan Syndrome / Orphanet J Rare Dis 10:153
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