منابع مشابه
Costello 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...
متن کاملAnaesthetic Management in Costello Syndrome.
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...
متن کاملKleine-Levin syndrome. Familial cases and comparison with sporadic cases.
OBJECTIVES To highlight the occurrence of familial cases and addresses, whether familial Kleine-Levine syndrome (KLS) presents the same spectrum of disease, as that seen in sporadic KLS. METHODS Between September and December 2014, reports of familial cases of KLS were identified by searching the Library of Congress, PubMed, and Web of Science databases restricted to the English language, w...
متن کاملSyndrome de Costello: à propos d'une observation
Le syndrome de Costello appelé également syndrome Facio-cutanéo-squelettique est une anomalie rare du développement d’origine génétique de transmission autosomique dominante. Sa prévalence est inconnue mais environ 250 cas ont été rapportés dans la littérature. La majorité des cas sont sporadiques. Les principaux signes sont une dysmorphie faciale caractéristique, un retard mental, un retard de...
متن کاملCraniofacial and dental development in Costello syndrome.
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: Korean Journal of Pediatrics
سال: 2007
ISSN: 1738-1061
DOI: 10.3345/kjp.2007.50.10.1024