PDF(Pubmed)
Abstract：
UNASSIGNED: Treacher Collins syndrome (TCS) is a rare congenital disorder of craniofacial development characterized by numerous developmental anomalies that are restricted to the head and neck. Most TCS cases are inherited in an autosomal dominant manner. The diagnosis of TCS relies on clinical and radiographic findings. The four genes involved in TCS are TCOF1, POLR1D, POLR1C, and POLR1B.
UNASSIGNED: In this report, we present the case of a 7-year-old Moroccan boy who exhibited distinctive dysmorphic features, including coloboma and zygomatic bone hypoplasia. Upon genetic analysis, a mutation in the TCOF1 gene was identified, conclusively confirming the presence of Treacher Collins Syndrome. It is worthy that the correct etiological diagnosis was significantly delayed due to the initial misperception that the observed malformation syndrome was a result of drug teratogenicity.
UNASSIGNED: This case highlights the importance of seeking pharmacovigilance advice if any adverse event occurs following medication use. Furthermore, requesting a genetic consultation to establish a confirmed etiological diagnosis for any malformation syndrome can significantly reduce the protracted social and psychological suffering that patients and their families may endure.
UNASSIGNED: In this report, we present the case of a 7-year-old Moroccan boy who exhibited distinctive dysmorphic features, including coloboma and zygomatic bone hypoplasia. Upon genetic analysis, a mutation in the TCOF1 gene was identified, conclusively confirming the presence of Treacher Collins Syndrome. It is worthy that the correct etiological diagnosis was significantly delayed due to the initial misperception that the observed malformation syndrome was a result of drug teratogenicity.
UNASSIGNED: This case highlights the importance of seeking pharmacovigilance advice if any adverse event occurs following medication use. Furthermore, requesting a genetic consultation to establish a confirmed etiological diagnosis for any malformation syndrome can significantly reduce the protracted social and psychological suffering that patients and their families may endure.
摘要：
■TreacherCollins综合征（TCS）是一种罕见的先天性颅面发育障碍，其特征是许多发育异常仅限于头颈部。大多数TCS病例以常染色体显性遗传方式遗传。TCS的诊断依赖于临床和影像学检查结果。参与TCS的四个基因是TCOF1、POLR1D、POLR1C,POLR1B
■在本报告中，我们介绍了一个7岁的摩洛哥男孩，他表现出独特的畸形特征，包括结肠瘤和颧骨发育不全。通过基因分析,在TCOF1基因中发现了一个突变,最终证实了叛逆者柯林斯综合症的存在.值得的是，由于最初的误解，即观察到的畸形综合征是药物致畸的结果，因此正确的病因诊断被大大延迟。
此案例强调了如果用药后出现任何不良事件，寻求药物警戒建议的重要性。此外，要求进行遗传咨询以确定任何畸形综合征的病因诊断可以显着减少患者及其家人可能承受的长期社会和心理痛苦。
■在本报告中，我们介绍了一个7岁的摩洛哥男孩，他表现出独特的畸形特征，包括结肠瘤和颧骨发育不全。通过基因分析,在TCOF1基因中发现了一个突变,最终证实了叛逆者柯林斯综合症的存在.值得的是，由于最初的误解，即观察到的畸形综合征是药物致畸的结果，因此正确的病因诊断被大大延迟。
此案例强调了如果用药后出现任何不良事件，寻求药物警戒建议的重要性。此外，要求进行遗传咨询以确定任何畸形综合征的病因诊断可以显着减少患者及其家人可能承受的长期社会和心理痛苦。
