Department of Ultrasound, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China.
Center of Prenatal Diagnosis, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, China.
Int J Gynaecol Obstet. 2023 Dec;163(3):778-781. doi: 10.1002/ijgo.14881. Epub 2023 May 25.
Treacher Collins syndrome (TCS) should be suspected if the triad of micrognathia, glossoptosis, and posterior cleft palate, and deformed external ears are observed during prenatal ultrasonography, excepting Pierre Robin sequence. Visualization of the fetal zygomatic bone and down-slanting palpebral fissures are conducive to differentiation. Molecular genetics testing can establish a definite diagnosis. A 28-year-old pregnant Chinese woman was referred for systematic ultrasound examination at 24 weeks. Two-dimensional and three-dimensional ultrasound showed polyhydramnios, micrognathia, absence of nasal bone, microtia, secondary cleft palate, mandibular hypoplasia, glossoptosis, and normal limbs and vertebrae. Pierre Robin sequence was misdiagnosed with the triad of micrognathia, glossoptosis, and posterior cleft palate. Final diagnosis of TCS was confirmed by whole-exome sequencing. Visualization of the fetal zygomatic bone and down-slanting palpebral fissures can facilitate a differential diagnosis between Pierre Robin sequence and TCS, with the triad of micrognathia, glossoptosis, and posterior cleft palate.
如果在产前超声检查中观察到小下颌、软腭下垂和后腭裂三联征，以及外耳畸形，除了 Pierre Robin 序列外，应怀疑为Treacher Collins 综合征（TCS）。胎儿颧骨和下斜睑裂的可视化有助于鉴别。分子遗传学检测可建立明确的诊断。一位 28 岁的中国孕妇在 24 周时被转诊进行系统超声检查。二维和三维超声显示羊水过多、小下颌、无鼻骨、小耳、二度腭裂、下颌发育不良、软腭下垂和正常的四肢和脊柱。Pierre Robin 序列被误诊为小下颌、软腭下垂和后腭裂三联征。通过全外显子组测序最终诊断为 TCS。胎儿颧骨和下斜睑裂的可视化有助于鉴别 Pierre Robin 序列和 TCS，后者有小下颌、软腭下垂和后腭裂三联征。
