Prenatally diagnosed microdeletion in the TCOF1 gene in fetal congenital primary Treacher Collins Syndrome

Objective: To study prenatal diagnosis of congenital Treacher Collins syndrome, an etiology of craniofacial abnormalities. Case report: We present a case of fetal craniofacial abnormalities identified by antepartum sonography screening in the third trimester (28 weeks); features of micrognathia, hyp...

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Bibliographic Details
Main Authors: Wei Shin Chou, Jia Shing Chen, Yu Ming Shiao, Ju Chin Tsauer, Yi Fen Chang, Ching Hua Hsiao
Format: Article
Language:English
Published: Elsevier 2022-05-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455922000882