Recurrent Pericarditis in Myhre Syndrome

Paolo Picco, Aldo Naselli, Giovanna Pala, Alberto Marsciani, Antonella Buoncompagni, Alberto Martini

Research output: Contribution to journalArticle

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 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.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
Volume9999
DOIs
Publication statusAccepted/In press - 2013

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Keywords

  • Anakinra
  • Myhre syndrome
  • Recurrent pericarditis
  • SMAD 4

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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