Say-Meyer syndrome is a rare and clinically heterogeneous syndrome characterized by
trigonocephaly, short stature, developmental delay and hypotelorism. Nine patients with this
syndrome have been reported thus far although no causative gene has yet been identified.
Here, we report two siblings with clinical phenotypes of Say-Meyer syndrome with moderate
to severe intellectual disability and autism spectrum disorder. Cytogenetics and array-based
comparative genomic hybridization did not reveal any chromosome abnormalities or copy …