The authors declared that they have no conflicts of interest.
Recurrent Pericarditis in Myhre Syndrome†
Article first published online: 22 APR 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 5, pages 1164–1166, May 2013
How to Cite
2013. Recurrent Pericarditis in Myhre Syndrome Am. J. Med. Genet. 161A:1164–1166., , , , , .
- Issue published online: 22 APR 2013
- Article first published online: 22 APR 2013
- Manuscript Accepted: 21 DEC 2012
- Manuscript Received: 13 SEP 2012
- Myhre syndrome;
- recurrent pericarditis;
- SMAD 4
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 SMAD4 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.