Autism spectrum disorder and achondroplasia in an Egyptian patient
Ismail, S., Megahed, H., Ismail, S., Hindawy, A. (2022). Autism spectrum disorder and achondroplasia in an Egyptian patient. EKB Journal Management System, 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". EKB Journal Management System, 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', EKB Journal Management System, 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. EKB Journal Management System, 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  XML PDF (359.72 K)
DOI: 10.4103/mxe.mxe_7_21
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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
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