Myhre syndrome

C Le Goff, C Michot, V Cormier‐Daire - Clinical genetics, 2014 - Wiley Online Library
… Clinical and radiological features of patients with Myhre syndrome. (a) Photograph of
individual at the age of 10 years. (b) Hand X rays at the age of 4 years note the generalized …

Natural history of Myhre syndrome

DD Yang, M Rio, C Michot, N Boddaert… - Orphanet Journal of …, 2022 - Springer
… Bilateral otospongiosis and a unilateral vestibular schwannoma in a patient with Myhre
syndrome. Otol Neurotol Off Publ Am Otol Soc Am Neurotol Soc Eur Acad Otol Neurotol. 2014;35:…

Natural history and life-threatening complications in Myhre syndrome and review of the literature

L Garavelli, I Maini, F Baccilieri, I Ivanovski… - European journal of …, 2016 - Springer
Myhre syndrome during childhood in a subject with molecularly confirmed diagnosis. The
clinical records of 48 affected patients … threatening complications of Myhre syndrome that justify …

Myhre syndrome: new reports, review, and differential diagnosis

L Burglen, D Heron, A Moerman… - Journal of medical …, 2003 - jmg.bmj.com
patients had hypertension. We report here four new unrelated patients who fit a diagnosis of
Myhre syndrome… new unrelated patients who fit a diagnosis of Myhre syndrome. Absence of …

Clinical features and respiratory complications in Myhre syndrome

R McGowan, R Gulati, P McHenry, A Cooke… - European journal of …, 2011 - Elsevier
… ► We review the Myhre syndrome patients in the literature and the differential diagnosis.
► … Our patients had clinical features of Myhre syndrome with facial resemblances including …

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

C Michot, C Le Goff, C Mahaut, A Afenjar… - European Journal of …, 2014 - nature.com
… We specifically analyzed the three Myhre syndrome patients with no SMAD4 mutation. All
of them had typical muscular, skin and joint abnormalities and facial appearance. Only one of …

Myhre syndrome: clinical features and restrictive cardiopulmonary complications

LJ Starr, DK Grange, JW Delaney… - American Journal of …, 2015 - Wiley Online Library
… We report five new Myhre syndrome patients with SMAD4 mutations, three of whom died
of severe cardiac disease, and provide delineation of the associated fibrotic complications. …

Gain‐of‐function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome

AE Lin, C Michot, V Cormier‐Daire… - American journal of …, 2016 - Wiley Online Library
Myhre syndrome is a rare, distinctive syndrome due to … described patients with typical features
of Myhre syndrome who had (i… about a fifth previously reported patient with fatal pericardial …

Recurrent pericarditis in Myhre syndrome

P Picco, A Naselli, G Pala, A Marsciani… - American Journal of …, 2013 - Wiley Online Library
patient with Myhre syndrome (OMIM 139210) who developed steroid-dependent recurrent
pericarditis. The diagnosis of Myhre syndromeMyhre syndrome is a multi-organ disease with …

A child with Myhre syndrome presenting with corectopia and tetralogy of Fallot

M Alagia, G Cappuccio, M Pinelli… - American Journal of …, 2018 - Wiley Online Library
… is the youngest patient with Myhre syndrome. Moreover, … In conclusion, we report a young
child with Myhre syndrome due to … not been previously reported in Myhre syndrome patients. …