A Comprehensive and Clinical Review of Distal Deletion Syndrome of Chromosome 5q14.3

Cardozo et al. (2009) reported 3 unrelated children, 2 boys and 1 girl, with severe mental retardation, epilepsy, and bilateral periventricular heterotopia limited to the subcutaneous region of the temporal bones and occipital lateral ventricles. Other features of this syndrome include hypotonia, delayed motor development, lack of speech, and minor facial deformities such as a prominent forehead, depressed nasal bridge, and high blood pressure