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

• Үндсэн зохиолчид: Chih-Ping Chen (Зохиогч), Jian-Pei Huang (Зохиогч), Kun-Shuo Huang (Зохиогч), Yi-Yung Chen (Зохиогч), Fang-Tzu Wu (Зохиогч), Yen-Ting Pan (Зохиогч), Chien-Ling Chiu (Зохиогч), Wayseen Wang (Зохиогч)
• Формат: Ном
• Хэвлэсэн: Elsevier, 2024-05-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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...