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Myhre syndrome.
Le Goff C, Michot C, Cormier-Daire V. Le Goff C, et al. Clin Genet. 2014 Jun;85(6):503-13. doi: 10.1111/cge.12365. Epub 2014 Apr 2. Clin Genet. 2014. PMID: 24580733 Review.
Myhre syndrome (MS) is a developmental disorder characterized by typical facial dysmorphism, thickened skin, joint limitation and muscular pseudohypertrophy. Other features include brachydactyly, short stature, intellectual deficiency with behavioral problems …
Myhre syndrome (MS) is a developmental disorder characterized by typical facial dysmorphism, thickened skin, 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 …
Myhre syndrome: new reports, review, and differential diagnosis.
Burglen L, Héron D, Moerman A, Dieux-Coeslier A, Bourguignon JP, Bachy A, Carel JC, Cormier-Daire V, Manouvrier S, Verloes A. Burglen L, et al. J Med Genet. 2003 Jul;40(7):546-51. doi: 10.1136/jmg.40.7.546. J Med Genet. 2003. PMID: 12843331 Free PMC article. Review. No abstract available.
Probable identity of Goltz syndrome and Van Allen-Myhre syndrome: evidence from phenotypic evolution.
Hancock S, Pryde P, Fong C, Brazy JE, Stewart K, Favour A, Pauli RM. Hancock S, et al. Am J Med Genet. 2002 Jul 15;110(4):370-9. doi: 10.1002/ajmg.10456. Am J Med Genet. 2002. PMID: 12116212 Review.
We describe a girl who was diagnosed with split foot-split hand anomaly prenatally, in whom at birth the diagnosis of Van Allen-Myhre syndrome was made, and who at 8 months of age was recognized to have Goltz syndrome. Based on the evolution of clinical featu …
We describe a girl who was diagnosed with split foot-split hand anomaly prenatally, in whom at birth the diagnosis of Van Allen-Myhre …
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
Lin AE, Michot C, Cormier-Daire V, L'Ecuyer TJ, Matherne GP, Barnes BH, Humberson JB, Edmondson AC, Zackai E, O'Connor MJ, Kaplan JD, Ebeid MR, Krier J, Krieg E, Ghoshhajra B, Lindsay ME. Lin AE, et al. Am J Med Genet A. 2016 Oct;170(10):2617-31. doi: 10.1002/ajmg.a.37739. Epub 2016 Jun 14. Am J Med Genet A. 2016. PMID: 27302097 Review.
Myhre syndrome is a rare, distinctive syndrome due to specific gain-of-function mutations in SMAD4. ...Additional information is provided about a fifth previously reported patient with fatal pericardial disease. A literature review of the cardiovascular featu …
Myhre syndrome is a rare, distinctive syndrome due to specific gain-of-function mutations in SMAD4. ...Additional infor …
From tall to short: the role of TGFβ signaling in growth and its disorders.
Le Goff C, Cormier-Daire V. Le Goff C, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):145-53. doi: 10.1002/ajmg.c.31337. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791552 Review.
Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acromicric dysplasia (AD), and Myhre syndrome (MS). ...Using a yeast double hybrid screen, we identified latent transforming growth fa …
Four disorders can now be ascribed to this group, namely Weill-Marchesani syndrome (WMS), geleophysic dysplasia (GD), acromicric dysp …
A new case of Myhre syndrome.
Whiteford ML, Doig WB, Raine PA, Hollman AS, Tolmie JL. Whiteford ML, et al. Clin Dysmorphol. 2001 Apr;10(2):135-40. doi: 10.1097/00019605-200104000-00011. Clin Dysmorphol. 2001. PMID: 11310994 Review.
Myhre Syndrome is a rare condition associated with mental retardation, short stature, generalized muscle hypertrophy, cardiac defects and a distinct facial appearance. There have only been five reported cases and we now present a sixth, together with a review …
Myhre Syndrome is a rare condition associated with mental retardation, short stature, generalized muscle hypertrophy, c …