Abstract:Cornelia de Lange syndrome (CdLS) is a very rare genetic disorder that is apparent at birth (congenital). Since children with CdLS are often compared to a typical child’s grow rate, many are incorrectly diagnosed.In the absence of the genotyping, the diagnosis would be clinical: a range of criteria would be required, such as the facial features and criteria related to at least one of the following : development, behaviour or growth. Short-stature associated with CdLS is usually due to GH deficiency or GH resis… Show more
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