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 language | English |
|---|---|
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 9999 |
| DOIs | |
| Publication status | Accepted/In press - 2013 |
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Keywords
- Anakinra
- Myhre syndrome
- Recurrent pericarditis
- SMAD 4
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Recurrent Pericarditis in Myhre Syndrome. / Picco, Paolo; Naselli, Aldo; Pala, Giovanna; Marsciani, Alberto; Buoncompagni, Antonella; Martini, Alberto.
In: American Journal of Medical Genetics, Part A, Vol. 9999, 2013.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Recurrent Pericarditis in Myhre Syndrome
AU - Picco, Paolo
AU - Naselli, Aldo
AU - Pala, Giovanna
AU - Marsciani, Alberto
AU - Buoncompagni, Antonella
AU - Martini, Alberto
PY - 2013
Y1 - 2013
N2 - 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.
AB - 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.
KW - Anakinra
KW - Myhre syndrome
KW - Recurrent pericarditis
KW - SMAD 4
UR - http://www.scopus.com/inward/record.url?scp=84875065843&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84875065843&partnerID=8YFLogxK
U2 - 10.1002/j.1552-4833.2013.35892.x
DO - 10.1002/j.1552-4833.2013.35892.x
M3 - Article
VL - 9999
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
ER -