The hallmarks of Emanuel syndrome are pre- and postnatal growth retardation, microcephaly, global developmental delay, ear anomalies, and in males, heart, kidney, and genital abnormalities. This study describes the atypical features of Emanuel syndrome, a rare chromosomal disorder. The patient had several physical features that are common in Emanuel syndrome, such as microcephaly, hypotonia, and ear anomalies. However, he exhibited certain unusual characteristics, including the lack of a prominent forehead, epicanthic folds, and a downward slanting palpebral fissure. There was infratentorial brain involution with a minor infarction in the left cerebral hemisphere and cerebellar hypoplasia on the magnetic resonance imaging (MRI) scan of the brain. Additionally, the patient had bilateral mild hearing loss and an aberrant epileptogenic pattern on the electroencephalogram (EEG). Orodental examination showed a long philtrum, everted fissured thick lower lip, highly attached labial frenum, and prominent median palatine raphe. The karyotype revealed 45XY t(11;22)(p15.5;q11.22), which is different from the typical karyotype of Emanuel syndrome. This case sheds light on the possibility of alternative genetic mechanisms, beyond chromosomal abnormalities, in patients presenting with multiple congenital anomalies and facial dysmorphism.

中文翻译：

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异常模式导致的伊曼纽尔综合症

伊曼纽尔综合征的特点是产前和产后生长迟缓、小头畸形、整体发育迟缓、耳朵异常，以及男性的心脏、肾脏和生殖器异常。这项研究描述了伊曼纽尔综合征（一种罕见的染色体疾病）的非典型特征。该患者具有伊曼纽尔综合征常见的几种身体特征，例如小头畸形、肌张力减退和耳朵异常。然而，他表现出一些不寻常的特征，包括没有突出的前额、内眦赘皮和向下倾斜的睑裂。大脑磁共振成像 (MRI) 扫描显示幕下大脑复旧，左大脑半球有轻微梗塞，小脑发育不全。此外，患者双侧轻度听力损失，脑电图（EEG）显示异常致癫痫模式。口腔检查显示人中较长，下唇外翻，有裂隙，唇系带高度附着，腭中缝突出。核型显示为45XY t(11;22)(p15.5;q11.22)，与Emanuel综合征的典型核型不同。该病例揭示了在患有多种先天性异常和面部畸形的患者中，除了染色体异常之外，还有其他遗传机制的可能性。