Recurrent Pericarditis in Myhre Syndrome1. Issue 5 (22nd April 2013)

• Record Type: Journal Article
• Authors: Picco, Paolo; Naselli, Aldo; Pala, Giovanna; Marsciani, Alberto; Buoncompagni, Antonella; Martini, Alberto
• Is Part Of: American journal of medical genetics. Volume 161:Issue 5(2013:May)
• Page Start: 1164
• Page End: 1166
• Publication Date: 2013-04-22
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35892
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35892-sec-0001" sec-type="section"> <p>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 caused by recently identified <italic>SMAD4</italic> mutations. Here we describe a 7‐year‐old boy with a molecularly proven Myhre syndrome who presented life‐threatening recurrent pericarditis and systemic inflammatory symptoms that required treatment with steroid and recombinant interleukin‐1 receptor antagonist.</p> </sec> </abstract>