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Picco P.,slini Istituteand University Of Genoagenoaitaly | Naselli A.,slini Istituteand University Of Genoagenoaitaly | Pala G.,slini Istituteand University Of Genoagenoaitaly | Buoncompagni A.,slini Istituteand University Of Genoagenoaitaly | Martini A.,slini Istituteand University Of Genoagenoaitaly
American Journal of Medical Genetics, Part A | Year: 2013

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. © 2013 Wiley Periodicals, Inc. Source

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