Psychiatr Genet. 2023 Sep 7. doi: 10.1097/YPG.0000000000000350. Online ahead of print.

ABSTRACT

Achondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexistence of autism with Down syndrome and microdeletion syndromes helps to shed light on the genetic basis of ASD. The association between ASD and achondroplasia has been reported twice in the literature. In this article, we report Turkish patients who were born as identical twins from IVF pregnancy of 34 and 36-year-old parents, clinically and molecularly diagnosed with achondroplasia, and diagnosed with ASD at the age of 39 months. Our case is the first twin patient with the coexistence of achondroplasia and autism. We discuss environmental and genetic factors contributing to the development of ASD.

PMID:37706508 | DOI:10.1097/YPG.0000000000000350