Xie Charlies L, Cardenas Agustin M
Department of Radiology, University of Alabama-Birmingham, Birmingham, Alabama, USA.
Department of Radiology, Children's of Alabama, Birmingham, Alabama, USA.
J Radiol Case Rep. 2019 Oct 31;13(10):1-5. doi: 10.3941/jrcr.v13i10.3625. eCollection 2019 Oct.
Emanuel syndrome is a rare inherited chromosomal abnormality caused by an unbalanced translocation of chromosomes 11 and 22. Clinically, Emanuel syndrome is characterized by a wide spectrum of congenital anomalies, dysmorphisms, and developmental disability often confused with other similar syndromes. Outside of genetic testing, diagnosis remains challenging and current literature on typical radiologic findings is limited. We present classic neuroimaging findings of Emanuel syndrome consistent with prior literature including microcephaly, microretrognathia, external auditory canal stenosis, and cleft palate; and also introduce the additional maxillofacial anomaly of dysplastic middle ear ossicles, to our knowledge not previously described in the literature. Recognition of findings leading to earlier diagnosis of Emanuel syndrome may improve outcomes and quality of life for patients and their families.
伊曼纽尔综合征是一种罕见的遗传性染色体异常疾病，由11号和22号染色体的不平衡易位引起。临床上，伊曼纽尔综合征的特征是存在广泛的先天性异常、畸形和发育障碍，常与其他类似综合征相混淆。除基因检测外，诊断仍具有挑战性，目前关于典型影像学表现的文献有限。我们展示了与既往文献一致的伊曼纽尔综合征的经典神经影像学表现，包括小头畸形、小颌后缩、外耳道狭窄和腭裂；并且还介绍了中耳小骨发育异常这种额外的颌面异常，据我们所知，此前文献中未曾描述过。认识这些有助于早期诊断伊曼纽尔综合征的表现，可能会改善患者及其家庭的治疗效果和生活质量。
