Case of twin achondroplasia and autism coexistence and literature review

Basit Öğe Kaydı
dc.contributor.authorBilgec, Nagehan
dc.contributor.authorBalasar, Ozgur
dc.contributor.authorUzun, Necati
dc.contributor.authorPekcan, Sevgi
dc.contributor.authorBedel, Fayize Maden
dc.contributor.authorCaksen, Huseyin
dc.date.accessioned2024-02-23T14:23:35Z
dc.date.available2024-02-23T14:23:35Z
dc.date.issued2023
dc.departmentNEÜen_US
dc.description.abstractAchondroplasia and autism spectrum disorder (ASD) are two genetically based disorders. The coexistence of autism with chromosomal abnormalities such as Down syndrome, monogenic syndromes such as tuberous sclerosis, Fragile X, and Rett syndrome, and microdeletion syndromes such as Phelan-McDermid syndrome helps to shed light on the genetic basis of autism spectrum disorder. 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.Copyright (c) 2023 Wolters Kluwer Health, Inc. All rights reserved.en_US
dc.identifier.doi10.1097/YPG.0000000000000350
dc.identifier.endpage250en_US
dc.identifier.issn0955-8829
dc.identifier.issn1473-5873
dc.identifier.issue6en_US
dc.identifier.pmid37706508en_US
dc.identifier.scopus2-s2.0-85177102492en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage243en_US
dc.identifier.urihttps://doi.org/10.1097/YPG.0000000000000350
dc.identifier.urihttps://hdl.handle.net/20.500.12452/13616
dc.identifier.volume33en_US
dc.identifier.wosWOS:001106339700001en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.relation.ispartofPsychiatric Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAchondroplasiaen_US
dc.subjectAutism Spectrum Disorderen_US
dc.subjectFgfr3en_US
dc.titleCase of twin achondroplasia and autism coexistence and literature reviewen_US
dc.typeReview Articleen_US

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