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1988 1
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2014 3
2015 1
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2020 3
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Page 1
Myhre Syndrome Misdiagnosed as Marfan Syndrome: an Educational Presentation.
Li J, Zhu T, Yang S, Yang F, Wu J, Xiong F. Li J, et al. Braz J Cardiovasc Surg. 2021 Oct 17;36(5):700-702. doi: 10.21470/1678-9741-2020-0592. Braz J Cardiovasc Surg. 2021. PMID: 34236823 Free PMC article.
A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insufficiency (cardiac function level I-II) was misdiagnosed with Marfan Syndrome and there was no improvement in her physical growth after operatio …
A 32-month-old girl with patent ductus arteriosus, false tendon of left ventricle, mild pulmonary hypertension, and chronic cardiac insuffic …
Myhre syndrome: expanding its paediatric phenotypic spectrum.
Brunet-Garcia L, Prada Martínez FH, Carretero Bellon JM. Brunet-Garcia L, et al. Cardiol Young. 2023 Nov;33(11):2408-2410. doi: 10.1017/S1047951123001592. Epub 2023 Jun 16. Cardiol Young. 2023. PMID: 37325812
Myhre syndrome is a rare disease secondary to pathogenic variants in SMAD4 gene. It is a multisystem disease characterised by short stature, deafness, joint stiffness, craniofacial dysmorphism, and potential cardiac manifestations. Herein, we report two new paediatr …
Myhre syndrome is a rare disease secondary to pathogenic variants in SMAD4 gene. It is a multisystem disease characterised by …
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V. Michot C, et al. Eur J Hum Genet. 2014 Nov;22(11):1272-7. doi: 10.1038/ejhg.2013.288. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424121 Free PMC article.
Myhre syndrome is characterized by short stature, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss. ...Our identification of SMAD4 mutations in 29/32 cases confirms that SMAD4 is the major gene responsible for Myhre …
Myhre syndrome is characterized by short stature, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation …
A newborn male with Myhre syndrome, hearing loss, and complete syndactyly of fingers 3-4.
Yang K, Wang X, Wang WQ, Han MY, Hu LM, Kang DY, Yang JY, Liu M, Gao X, Yuan YY, Xu JC. Yang K, et al. Mol Genet Genomic Med. 2023 Mar;11(3):e2103. doi: 10.1002/mgg3.2103. Epub 2022 Nov 14. Mol Genet Genomic Med. 2023. PMID: 36373990 Free PMC article. Review.
The early clinical diagnosis of Myhre syndrome remains a major challenge, particularly in the first year of life. ...Ile500Val) in SMAD4 was detected confirming the clinical diagnosis of Myhre syndrome at the age of 38 days. The infant appears to be th …
The early clinical diagnosis of Myhre syndrome remains a major challenge, particularly in the first year of life. ...Ile500Val …
Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.
Starr LJ, Lindsay ME, Perry D, Gheewalla G, VanderLaan PA, Majid A, Strange C, Costea GC, Lungu A, Lin AE. Starr LJ, et al. Pediatr Dev Pathol. 2022 Nov-Dec;25(6):611-623. doi: 10.1177/10935266221079569. Epub 2022 Sep 17. Pediatr Dev Pathol. 2022. PMID: 36120950
Results: Examination of patient tissues documents cellular fibroproliferation and deposition of excessive extracellular matrix explaining some of the observed clinical features of Myhre syndrome. Conclusion: Excessive fibrosis is noted in multiple tissues, especiall …
Results: Examination of patient tissues documents cellular fibroproliferation and deposition of excessive extracellular matrix explaining so …
Myhre syndrome: A first familial recurrence and broadening of the phenotypic spectrum.
Meerschaut I, Beyens A, Steyaert W, De Rycke R, Bonte K, De Backer T, Janssens S, Panzer J, Plasschaert F, De Wolf D, Callewaert B. Meerschaut I, et al. Am J Med Genet A. 2019 Dec;179(12):2494-2499. doi: 10.1002/ajmg.a.61377. Epub 2019 Oct 9. Am J Med Genet A. 2019. PMID: 31595668
Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities, arthropathy, cardiopathy, laryngotracheal anomalies, and stiff skin. ...We report on four …
Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short stature, facial dysmorphology, variabl …
A case of Myhre syndrome mimicking juvenile scleroderma.
Jensen B, James R, Hong Y, Omoyinmi E, Pilkington C, Sebire NJ, Howell KJ, Brogan PA, Eleftheriou D. Jensen B, et al. Pediatr Rheumatol Online J. 2020 Sep 11;18(1):72. doi: 10.1186/s12969-020-00466-1. Pediatr Rheumatol Online J. 2020. PMID: 32917212 Free PMC article.
BACKGROUND: Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. ...CONCLUSION: Myhre Syndrome is a rare genetic mimic of sc …
BACKGROUND: Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene …
A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot.
Alagia M, Cappuccio G, Pinelli M, Torella A, Brunetti-Pierri R, Simonelli F, Limongelli G, Oppido G, Nigro V, Brunetti-Pierri N; TUDP. Alagia M, et al. Am J Med Genet A. 2018 Feb;176(2):426-430. doi: 10.1002/ajmg.a.38560. Epub 2017 Dec 12. Am J Med Genet A. 2018. PMID: 29230941 Free PMC article.
Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. ...Therefore, the diagnosis of this syndrome in the first years of life is challenging. We report a 2-year-old girl diagnosed with Myhre …
Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. ...T …
Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome.
Lin AE, Alali A, Starr LJ, Shah N, Beavis A, Pereira EM, Lindsay ME, Klugman S. Lin AE, et al. Am J Med Genet A. 2020 Feb;182(2):328-337. doi: 10.1002/ajmg.a.61430. Epub 2019 Dec 14. Am J Med Genet A. 2020. PMID: 31837202
Myhre syndrome is an increasingly diagnosed rare syndrome that is caused by one of two specific heterozygous gain-of-function pathogenic variants in SMAD4. ...We describe six patients (two not previously reported) with molecularly confirmed Myhre syndrome …
Myhre syndrome is an increasingly diagnosed rare syndrome that is caused by one of two specific heterozygous gain-of-function …
Natural history and life-threatening complications in Myhre syndrome and review of the literature.
Garavelli L, Maini I, Baccilieri F, Ivanovski I, Pollazzon M, Rosato S, Iughetti L, Unger S, Superti-Furga A, Tartaglia M. Garavelli L, et al. Eur J Pediatr. 2016 Oct;175(10):1307-15. doi: 10.1007/s00431-016-2761-3. Epub 2016 Aug 25. Eur J Pediatr. 2016. PMID: 27562837
Myhre syndrome (OMIM 139210) is a rare developmental disorder inherited as an autosomal dominant trait and caused by a narrow spectrum of missense mutations in the SMAD4 gene. ...Review of the literature showed that pericarditis and laryngotracheal complications rep …
Myhre syndrome (OMIM 139210) is a rare developmental disorder inherited as an autosomal dominant trait and caused by a narrow …
33 results