Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II

• Main Authors: Chih-Ping Chen (Author), Jian-Pei Huang (Author), Kun-Shuo Huang (Author), Yi-Yung Chen (Author), Fang-Tzu Wu (Author), Yen-Ting Pan (Author), Chien-Ling Chiu (Author), Wayseen Wang (Author)
• Format: Book
• Published: Elsevier, 2024-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: We present perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II (TD2). Case Repor...