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.
Copyright © 2013 Wiley Periodicals, Inc.
MeSH terms
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Child
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Cryptorchidism / complications*
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Cryptorchidism / drug therapy
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Cryptorchidism / genetics
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Facies
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Growth Disorders / complications*
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Growth Disorders / drug therapy
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Growth Disorders / genetics
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Hand Deformities, Congenital / complications*
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Hand Deformities, Congenital / drug therapy
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Hand Deformities, Congenital / genetics
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Humans
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Hypertrophy / complications*
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Hypertrophy / drug therapy
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Hypertrophy / genetics
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Intellectual Disability / complications*
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Intellectual Disability / drug therapy
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Intellectual Disability / genetics
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Interleukin 1 Receptor Antagonist Protein / therapeutic use*
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Joint Diseases / complications*
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Joint Diseases / drug therapy
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Joint Diseases / genetics
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Male
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Pericarditis / complications*
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Pericarditis / drug therapy
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Pericarditis / genetics
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Prednisone / therapeutic use*
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Recurrence
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Smad4 Protein / genetics*
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Treatment Outcome
Substances
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Interleukin 1 Receptor Antagonist Protein
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Smad4 Protein
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Prednisone
Supplementary concepts
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Growth mental deficiency syndrome of Myhre