… fibroproliferation and deposition of excessive extracellular matrix explaining some of the
observed clinical features of Myhre syndrome… gross and pathologic findings in Myhre syndrome. …

… of cardiovascular defects with a striking fibroproliferative response to surgical intervention.
We report four newly described patients with typical features of Myhre syndrome who had (i) a …

… We present five previously unreported patients with Myhre syndrome. Despite varied clinical
… with Myhre syndrome. A progressive and markedly abnormal fibroproliferative response to …

… a striking fibroproliferative response in the ear canals, airways, and serosal cavities (peritoneum,
pleura, pericardium). Confirmation of the clinical diagnosis is usually prompted by the …

… on a familial case of Myhre syndrome and a second adult proband with Myhre syndrome. All
four … Comparably, her son developed a fibroproliferative complication with persistent flexion …

Myhre syndrome is a multisystem connective tissue disorder involving the skin and the
cardiovascular, respiratory, gastrointestinal, and musculoskeletal systems. Affected individuals …

Myhre syndrome (MYHRS, MIM 139210) is a rare developmental disorder first described in
1981, for which about 50 cases are currently reported. Clinical features of MHYRS include …

… nature and markedly abnormal fibroproliferative response to surgical intervention in Myhre …
In conclusion, Myhre syndrome is a rare genetic disorder that is caused by a common SMAD4 …

… Myhre syndrome is an increasingly diagnosed ultrarare condition caused by recurrent
germline autosomal dominant de novo variants in SMAD4. Detailed multispecialty evaluations …

… CONCLUSIONS: Surgery and invasive procedure should be minimized since a mutation
in the SMAD4 has been related with abnormal fibro-proliferative response and extracellular …