… Our patients had clinical features of Myhre syndrome with facial resemblances including
short palpebral fissures, maxillary hypoplasia and prognathism (Fig. 1). All were born to non-…

… over 80 reported patients with Myhre syndrome. Individuals with Myhre syndrome may have
… The purpose of this article is to review the pathologic features (both gross and histologic) of …

… Myhre syndrome is characterized by short stature, brachydactyly, facial features, … We
identified SMAD4 mutations as the cause of Myhre syndrome. SMAD4 mutations have …

… Myhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial
features … Myhre syndrome is a progressive disease with severe multisystemic impairement and …

… aspects of the disorder, which may be progressive and fatal. We report five new Myhre
syndrome patients with SMAD4 mutations, three of whom died of severe cardiac disease, and …

… The following descriptions of the phenotypic features associated with Myhre syndrome are
… Reduced range of motion of large and small joints is characteristic of Myhre syndrome and is …

… mean age 40 years) in patients with Myhre syndrome, raises the possibility of cancer …
syndrome when cancer screening panels are used. We propose that patients with Myhre syndrome …

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

… We report four newly described patients with typical features of Myhre syndrome who had
(i) a mildly narrow descending aorta and restrictive cardiomyopathy; (ii) recurrent pericardial …

… Myhre syndrome is inherited in an autosomal dominant manner. Most probands with Myhre
syndrome have the disorder … increased risk for Myhre syndrome and preimplantation genetic …