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Cornelia de Lange Syndrome (CdLS) spectrum disorders are characterized by multiple organ system congenital anomalies that result from mutations in genes encoding core cohesin proteins SMC1A, SMC3, and RAD21, or proteins that regulate cohesin function such as NIPBL and HDAC8.
In humans, mutation in the NIPBL gene results in the rare Cornelia de Lange syndrome (CdLS) (Krantz et al. 2004; Tonkin et al. 2004), a dominant autosomal disorder, affecting ~1 10,000 live born children and characterised by multiple organ system abnormalities, typical facial features, growth and mental retardation, upper limb defects and numerous other features (McNairn and Gerton 2008).
Similar(58)
Multiple organ system failure (MOSF) was defined using the criteria by Wilkinson et al [ 20].
multiple organ system failure.
How bad is the multiple organ system failure?
The patient finally succumbed to multiple organ system failure, 69 months after initial diagnosis.
Overall, three out of the 12 patients (25%) had multiple organ system failure.
This is associated with multiple organ system dysfunction including severe neuronal injury, and high mortality.
Systemic Lupus Erythematosus (SLE) is a systemic autoimmune disease characterised by involvement of multiple organ systems.
Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by inflammation in multiple organ systems [ 1].
It is characterized clinically by effects in multiple organ systems, including muscle, heart and the central nervous system.
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