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Discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith). Marshall-Smith Syndrome is characterized by unusual accelerated skeletal maturation (usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. Cases described in the literature show a clinical variabililty regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.[1]
Encyclopedia of Genetic Disorders
The syndrome is a rare clinical disorder [2].
An extended synopsis can be found at the Online Mendelian Inheritance in Man (OMIM): clinical synopsis.
Respiratory complications are often cause of death in early infancy. [2]
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