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

• Main Authors: Wei Shin Chou (Author), Jia Shing Chen (Author), Yu Ming Shiao (Author), Ju Chin Tsauer (Author), Yi Fen Chang (Author), Ching Hua Hsiao (Author)
• Format: Book
• Published: Elsevier, 2022-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...