Tetrasomy 18p is often the result of an additional isochromosome for the short arm of chromosome 18. Although many organ systems are affected phenotypically, the ocular manifestations associated with tetrasomy 18p have not been well characterized in the literature. This case report presents the ocular and facial features associated with tetrasomy 18p in a 4-year-old Black girl, along with a review of clinical presentations previously reported in the literature. A systematic review of the literature in PubMed was conducted to summarize the reported eye, ocular adnexa, and distinctive facial features in individuals with confirmed tetrasomy 18p. Searching "Tetrasomy 18p" generated 65 article results, of which 28 articles had sufficient eye and facial descriptions. Including the patient in this report, 90 patients had confirmed tetrasomy 18p. The most common features noted in these 90 patients, with a roughly equal male-to-female ratio of impact (7:8), were as follows: microcephaly (57%), triangular facies (18%), anomalous palpebral fissures (31%), strabismus (48%), low-set ears (52%), hearing loss to some extent (16%), depressed or flat nasal bridge (18%), smooth philtrum (41%), thin upper lip (27%), and highly arched palate (21%). Additionally, many were noted to have feeding difficulties (28%), developmental delay (58%), and abnormal brain findings on imaging (20%). Muscle tone was abnormal in 23% of the patients. This report elucidates the reoccurring eye, ocular adnexa, and distinctive facial features associated with tetrasomy 18p. This knowledge may assist in timely diagnosis and encourage providers to use a multidisciplinary approach for the treatment of affected individuals. [J Pediatr Ophthalmol Strabismus. 2021;58(6):e44-e48.].

中文翻译：

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Tetrasomy 18p 的眼睛、眼附属器和面部表现。

18p 四体通常是 18 号染色体短臂的额外等染色体的结果。虽然许多器官系统在表型上受到影响，但与 18p 四体相关的眼部表现在文献中尚未得到很好的描述。本病例报告介绍了一名 4 岁黑人女孩与 18p 四体相关的眼部和面部特征，并回顾了之前文献中报道的临床表现。对 PubMed 中的文献进行了系统回顾，以总结报告的 18p 四体综合征患者的眼睛、眼附件和独特的面部特征。搜索“Tetrasomy 18p”产生了65篇文章结果，其中28篇文章有足够的眼睛和面部描述。包括本报告中的患者，有 90 名患者确诊为 18p 四体。在这 90 名患者中注意到的最常见特征（男女影响比例大致相等 (7:8)）如下：小头畸形 (57%)、三角面 (18%)、异常睑裂 (31 %)、斜视 (48%)、低位耳朵 (52%)、一定程度的听力损失 (16%)、鼻梁凹陷或扁平 (18%)、人中光滑 (41%)、上唇薄 (27) %) 和高度拱形的上颚 (21%)。此外，许多人被注意到有喂养困难 (28%)、发育迟缓 (58%) 和大脑成像异常 (20%)。23% 的患者肌张力异常。该报告阐明了与 18p 四体相关的复发性眼睛、眼附件和独特的面部特征。这些知识可能有助于及时诊断并鼓励提供者使用多学科方法来治疗受影响的个人。[J Pediatr Ophthalmol 斜视。2021;58(6):e44-e48.]。