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Case report reports clinical manifestations of Myhre syndrome in a sixth affected individual, highlighting characteristic features including muscle hypertrophy and cardiac defects.
Myhre Syndrome is a rare condition associated with mental retardation, short stature, generalized muscle hypertrophy, cardiac defects and a distinct facial appearance. There have only been five reported cases and we now present a sixth, together with a review of the clinical features of this syndrome.
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Whiteford et al. (2001) studied this question.
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