Global developmental delay-osteopenia-ectodermal defect: Difference between revisions
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Latest revision as of 20:20, 11 August 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Global developmental delay-osteopenia-ectodermal defect is a syndrome characterised by the association of global developmental delay, osteopenia and skin anomalies. To date, only three cases (two brothers and one unrelated girl) have been reported. Central nervous system anomalies manifest as poor language skills, inappropriate behaviour (temper tantrums, aggressiveness), concentration and attention span difficulties and impulsiveness. Intellectual deficit was reported in two out of the three cases. Skin anomalies were hyperkeratosis, granular layer thickening, and sweat gland and melanocyte abnormalities.[1]