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Clinical review outlines five distinct X-linked mental retardation syndromes presenting with hypotonia, highlighting distinctive neurological and somatic features critical for molecular diagnosis.
Mental retardation (MR) and hypotonia occur together frequently and have a heterogeneous etiology. Molecular and clinical studies have led to the recent discovery of genes on the X chromosome that may be associated with syndromal forms of X-linked MR (XLMR). These disorders manifest additional neurological and somatic features that are helpful in establishing a specific diagnosis and etiology. This article provides an overview of MR and its association with hypotonia, with a review of five 'new' XLMR-hypotonia syndromes.
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Rogers et al. (2008) studied this question.
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