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Research: Rare association of trisomy 13 with ectrodactyly and congenital diaphragmatic hernia

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Research: Rare association of trisomy 13 with ectrodactyly and congenital diaphragmatic hernia

Clin Case Rep

. 2021 May 25;9(5):e04264. doi: 10.1002/ccr3.4264. eCollection 2021 May. https://pubmed.ncbi.nlm.nih.gov/34084521/

Rare association of trisomy 13 with ectrodactyly and congenital diaphragmatic hernia

Wafaa N Al Rawi 1Wala’a Al-Safi 1Ashraf N Abuobayda 1Nabil S Elmansoury 1Abhijeet S Lonikar 1Anas Alshorman 1Hasansaheb D Maldar 1Affiliations expand

Free PMC article

Abstract

Our findings expand the known clinical features of trisomy 13 by including ectrodactyly as a possible Trisomy 13-associated limb malformation. We highlight the importance of performing antenatal genetic test to establish more specific treatment plan.

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