Ismail, S., Megahed, H., Ismail, S., Hindawy, A. (2022). Autism spectrum disorder and achondroplasia in an Egyptian patient. test, 10(2), -. doi: 10.4103/mxe.mxe_7_21
Samira Ismail; Hisham Megahed; Somaya Ismail; Amina Hindawy. "Autism spectrum disorder and achondroplasia in an Egyptian patient". test, 10, 2, 2022, -. doi: 10.4103/mxe.mxe_7_21
Ismail, S., Megahed, H., Ismail, S., Hindawy, A. (2022). 'Autism spectrum disorder and achondroplasia in an Egyptian patient', test, 10(2), pp. -. doi: 10.4103/mxe.mxe_7_21
Ismail, S., Megahed, H., Ismail, S., Hindawy, A. Autism spectrum disorder and achondroplasia in an Egyptian patient. test, 2022; 10(2): -. doi: 10.4103/mxe.mxe_7_21

Autism spectrum disorder and achondroplasia in an Egyptian patient

Middle East Journal of Medical Genetics
Volume 10, Issue 2, June 2022    PDF (359.72 K)
DOI: 10.4103/mxe.mxe_7_21
Authors
Samira Ismail; Hisham Megahed; Somaya Ismail; Amina Hindawy
Abstract
Autism spectrum disorder (ASD) and achondroplasia are two distinctive disorders. Co-occurrence of ASD with different monogenic disorders, chromosomal aberration, and molecular defined syndromes has been reported. Yet, the coexistence of ASD with achondroplasia has been recently reported; it was supposed to be merely coincidental. It is of particular interest herein to report on an Egyptian patient having achondroplasia and ASD simultaneously. The current report includes a comparison of both cases and throws light on the importance of genetic and environmental contributions in the etiology of ASD.
Keywords
Achondroplasia; autism; Epilepsy; FGFR3
Statistics
Article View: 28
PDF Download: 33