2013
DOI: 10.1002/ajmg.a.35892
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Recurrent Pericarditis in Myhre Syndrome

Abstract: Myhre syndrome is a rare disorder characterized by pre- and postnatal short stature, brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia, prognathism and short philtrum), thick skin, muscular-appearing body build, decreased joint mobility, mixed hearing loss, and cleft lip and palate. Other clinical features include skeletal dysplasia, developmental delay with intellectual disability and/or behavioral disturbance, cardiac defects, cryptorchidism, and bone anomalies. The disease is… Show more

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Cited by 19 publications
(9 citation statements)
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“…Among these defects, TOF has not been reported. Moreover, patients with Myhre syndrome can develop recurrent pericardial effusion, constrictive pericarditis and cardiomyopathy (Lin et al, ; Picco et al, ). Given the occurrence of such complications, a timely diagnosis of Myhre syndrome is important.…”
Section: Discussionmentioning
confidence: 99%
“…Among these defects, TOF has not been reported. Moreover, patients with Myhre syndrome can develop recurrent pericardial effusion, constrictive pericarditis and cardiomyopathy (Lin et al, ; Picco et al, ). Given the occurrence of such complications, a timely diagnosis of Myhre syndrome is important.…”
Section: Discussionmentioning
confidence: 99%
“…Skeleton: Short tubular bones, thick femoral necks, brachydactyly, thick calvarium, iliac hypoplasia, broad ribs with the absence of one rib pair, platyspondyly, scoliosis, and vertebral fusion …”
Section: Glossarymentioning
confidence: 99%
“…Somatic findings: Short stature, muscular-appearing body build, brachydactyly, scleroderma-like skin, joint contractures, and sensorineural deafness. 272 Characteristic facial features include wide forehead, blepharophimosis, deviation of the nasal tip, cleft lip, malar hypoplasia, prognathism, and microtia. 273 Additionally, intellectual disability, ocular disease, developmental delay, heart malformations, delayed puberty, and restrictive lung disease.…”
Section: Spondylo-enchondro-dysplasia Spencd (Omim: 271550)mentioning
confidence: 99%
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“…Indeed, this clinical study led to highlight significant, possibly life‐threatening, health concerns in the course of the disease including obesity (56% = 23/41), arterial hypertension (33% = 17/51), broncho‐pulmonary insufficiency (39% = 12/31), laryngo‐tracheal stenosis and pericarditis. Apart from the Myhre patient who died of constrictive pericarditis , other cases of pericarditis reported showed: one case occurred at 6 years of age with spontaneous resolution , one case of LAPS with constrictive pericarditis at 10 years of age, associated with right ventricular hypertrophy, requiring pericardiectomy at 12 years (histology with fibrotic pericardium) , one case of LAPS with pericardial effusion that did not recur after window and pericardial biopsy (non‐specific fibrosis) and one case of LAPS with constrictive pericardium requiring pericardiectomy, who also had progressive stenosis of distal aorta with claudication and one case who developed recurrent pericarditis since his 7 years of age, which seemed to respond well to anakinra (Kineret ® , Swedish Orphan Biovitrum, Stockolm, Sweden) .…”
Section: Definitionmentioning
confidence: 99%