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Marfan syndrome, mild variable

MedGen UID:
864490
•Concept ID:
C4016053
•
Finding
Synonym: MARFAN SYNDROME, MILD VARIABLE
 
OMIM®: 134797

Professional guidelines

PubMed

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.
Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T
Hum Mutat 2002 Sep;20(3):153-61. doi: 10.1002/humu.10113. PMID: 12203987
Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.
Palz M, Tiecke F, Booms P, Göldner B, Rosenberg T, Fuchs J, Skovby F, Schumacher H, Kaufmann UC, von Kodolitsch Y, Nienaber CA, Leitner C, Katzke S, Vetter B, Hagemeier C, Robinson PN
Am J Med Genet 2000 Mar 20;91(3):212-21. doi: 10.1002/(sici)1096-8628(20000320)91:3<212::aid-ajmg12>3.0.co;2-3. PMID: 10756346

Recent clinical studies

Etiology

Improved Outcomes of Reimplantation vs Remodeling in Marfan Syndrome: A Propensity-Matched Study.
Elbatarny M, David TE, David CM, Chung JCY, Lafreniere-Roula M, Ouzounian M
Ann Thorac Surg 2023 Mar;115(3):576-582. Epub 2022 Jul 13 doi: 10.1016/j.athoracsur.2022.05.068. PMID: 35841950
Predictive Physical Manifestations for Progression of Scoliosis in Marfan Syndrome.
Taniguchi Y, Matsubayashi Y, Kato S, Doi T, Takeda N, Yagi H, Inuzuka R, Oshima Y, Tanaka S
Spine (Phila Pa 1976) 2021 Aug 1;46(15):1020-1025. doi: 10.1097/BRS.0000000000003939. PMID: 34228694
Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome.
Farrera A, Villanueva M, Vizcaíno A, Medina-Bravo P, Balderrábano-Saucedo N, Rives M, Cruz D, Hernández-Carbajal E, Granados-Riveron J, Sánchez-Urbina R
Head Face Med 2019 Dec 11;15(1):29. doi: 10.1186/s13005-019-0213-9. PMID: 31829202Free PMC Article
Aortic root dilatation in athletic population.
Pelliccia A, Di Paolo FM, Quattrini FM
Prog Cardiovasc Dis 2012 Mar-Apr;54(5):432-7. doi: 10.1016/j.pcad.2012.01.004. PMID: 22386294
Association of cervical artery dissection with connective tissue abnormalities in skin and arteries.
Brandt T, Morcher M, Hausser I
Front Neurol Neurosci 2005;20:16-29. doi: 10.1159/000088131. PMID: 17290108

Diagnosis

A new family with epiphyseal chondrodysplasia type Miura.
Kenis V, Melchenko E, Mazunin I, Pekkinen M, Mäkitie O
Am J Med Genet A 2021 Jan;185(1):112-118. Epub 2020 Oct 19 doi: 10.1002/ajmg.a.61923. PMID: 33073519
Increased fracture rate in children and adolescents with Marfan syndrome.
Trifirò G, Mora S, Marelli S, Luzi L, Pini A
Bone 2020 Jun;135:115333. Epub 2020 Mar 25 doi: 10.1016/j.bone.2020.115333. PMID: 32222606
The face in marfan syndrome: A 3D quantitative approach for a better definition of dysmorphic features.
Dolci C, Pucciarelli V, Gibelli DM, Codari M, Marelli S, Trifirò G, Pini A, Sforza C
Clin Anat 2018 Apr;31(3):380-386. Epub 2017 Dec 23 doi: 10.1002/ca.23034. PMID: 29226593
Aortic root dilatation in athletic population.
Pelliccia A, Di Paolo FM, Quattrini FM
Prog Cardiovasc Dis 2012 Mar-Apr;54(5):432-7. doi: 10.1016/j.pcad.2012.01.004. PMID: 22386294
Frequency of sleep apnea in adults with the Marfan syndrome.
Rybczynski M, Koschyk D, Karmeier A, Gessler N, Sheikhzadeh S, Bernhardt AM, Habermann CR, Treede H, Berger J, Robinson PN, Meinertz T, von Kodolitsch Y
Am J Cardiol 2010 Jun 15;105(12):1836-41. Epub 2010 Apr 27 doi: 10.1016/j.amjcard.2010.01.369. PMID: 20538140

Therapy

Improved Outcomes of Reimplantation vs Remodeling in Marfan Syndrome: A Propensity-Matched Study.
Elbatarny M, David TE, David CM, Chung JCY, Lafreniere-Roula M, Ouzounian M
Ann Thorac Surg 2023 Mar;115(3):576-582. Epub 2022 Jul 13 doi: 10.1016/j.athoracsur.2022.05.068. PMID: 35841950
Neonatal Marfan syndrome: Report of two cases.
Jurko T, Jurko A Jr, Minarik M, Micieta V, Tonhajzerova I, Kolarovszka H, Zibolen M
Neuro Endocrinol Lett 2017 Jul;38(3):138-140. PMID: 28759179

Prognosis

Predictive Physical Manifestations for Progression of Scoliosis in Marfan Syndrome.
Taniguchi Y, Matsubayashi Y, Kato S, Doi T, Takeda N, Yagi H, Inuzuka R, Oshima Y, Tanaka S
Spine (Phila Pa 1976) 2021 Aug 1;46(15):1020-1025. doi: 10.1097/BRS.0000000000003939. PMID: 34228694
Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.
Li J, Wu W, Lu C, Liu Y, Wang R, Si N, Liu F, Zhou J, Zhang S, Zhang X
Clin Chim Acta 2017 Nov;474:54-59. Epub 2017 Aug 24 doi: 10.1016/j.cca.2017.08.023. PMID: 28842177
Neonatal Marfan syndrome: Report of two cases.
Jurko T, Jurko A Jr, Minarik M, Micieta V, Tonhajzerova I, Kolarovszka H, Zibolen M
Neuro Endocrinol Lett 2017 Jul;38(3):138-140. PMID: 28759179
Aortic root dilatation in athletic population.
Pelliccia A, Di Paolo FM, Quattrini FM
Prog Cardiovasc Dis 2012 Mar-Apr;54(5):432-7. doi: 10.1016/j.pcad.2012.01.004. PMID: 22386294
Frequency of sleep apnea in adults with the Marfan syndrome.
Rybczynski M, Koschyk D, Karmeier A, Gessler N, Sheikhzadeh S, Bernhardt AM, Habermann CR, Treede H, Berger J, Robinson PN, Meinertz T, von Kodolitsch Y
Am J Cardiol 2010 Jun 15;105(12):1836-41. Epub 2010 Apr 27 doi: 10.1016/j.amjcard.2010.01.369. PMID: 20538140

Clinical prediction guides

Improved Outcomes of Reimplantation vs Remodeling in Marfan Syndrome: A Propensity-Matched Study.
Elbatarny M, David TE, David CM, Chung JCY, Lafreniere-Roula M, Ouzounian M
Ann Thorac Surg 2023 Mar;115(3):576-582. Epub 2022 Jul 13 doi: 10.1016/j.athoracsur.2022.05.068. PMID: 35841950
Predictive Physical Manifestations for Progression of Scoliosis in Marfan Syndrome.
Taniguchi Y, Matsubayashi Y, Kato S, Doi T, Takeda N, Yagi H, Inuzuka R, Oshima Y, Tanaka S
Spine (Phila Pa 1976) 2021 Aug 1;46(15):1020-1025. doi: 10.1097/BRS.0000000000003939. PMID: 34228694
Increased fracture rate in children and adolescents with Marfan syndrome.
Trifirò G, Mora S, Marelli S, Luzi L, Pini A
Bone 2020 Jun;135:115333. Epub 2020 Mar 25 doi: 10.1016/j.bone.2020.115333. PMID: 32222606
Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.
Li J, Wu W, Lu C, Liu Y, Wang R, Si N, Liu F, Zhou J, Zhang S, Zhang X
Clin Chim Acta 2017 Nov;474:54-59. Epub 2017 Aug 24 doi: 10.1016/j.cca.2017.08.023. PMID: 28842177
Aortic root dilatation in athletic population.
Pelliccia A, Di Paolo FM, Quattrini FM
Prog Cardiovasc Dis 2012 Mar-Apr;54(5):432-7. doi: 10.1016/j.pcad.2012.01.004. PMID: 22386294

Supplemental Content

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