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Finding new etiologies of mental retardation and hypotonia: X marks the spot
Author(s) -
Rogers R Curtis,
Stevenson Roger E,
Simensen Richard J,
Holden Kenton R,
Schwartz Charles E
Publication year - 2008
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2007.02022.x
Subject(s) - hypotonia , etiology , pediatrics , medicine , psychology , psychiatry
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.