Pulmonary infiltrates in Costello Syndrome
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چکیده
منابع مشابه
CASE STUDY Pulmonary infiltrates in Costello Syndrome
Pulmonary infiltrates in Costello Syndrome. N. Waldburg, F. Buehling, M. Evert, O. Burkhardt, T. Welte. #ERS Journals Ltd 2004. ABSTRACT: This paper reports on a patient with diffuse pulmonary infiltrates directly related to Costello Syndrome. This congenital disorder is characterised by multiple congenital abnormalities, such as psychomotor retardation, short stature, redundant skin, papilloma...
متن کاملCostello syndrome.
Costello syndrome is a rare, distinctive, multiple congenital anomaly syndrome, characterized by soft, loose skin with deep palmar and plantar creases, loose joints, distinctive coarse facial features and skeletal and cardiac abnormalities. The affected patients have a predisposition to develop malignancy, developmental delays and mental retardation. Recently, a 7-year-old male child born to no...
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Costello syndrome is a rare genetic disorder characterised by growth and mental retardation, macrocephaly, short neck and macroglossia. Cardiac involvement can also occur in Costello syndrome and is presented in the form of hypertrophic cardiomyopathy, tachyarrythmias and valvular dysfunction. Nervous system involvement including ventriculomegaly, hydrocephaly and Chiari type 1 malformation are...
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Costello syndrome (CS) is a RASopathy characterized by a wide range of cardiac, musculoskeletal, dermatological, and developmental abnormalities. The RASopathies are defined as a group of syndromes caused by activated Ras/mitogen-activated protein kinase (MAPK) signaling. Specifically, CS is caused by activating mutations in HRAS. Although receptor tyrosine kinase (RTK) signaling, which is upst...
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ژورنال
عنوان ژورنال: European Respiratory Journal
سال: 2004
ISSN: 0903-1936,1399-3003
DOI: 10.1183/09031936.04.00073704