Mosaic Trisomy 8 is a rare chromosomal abnormality estimated to occur one in 30,000 newborns. The phenotype is highly variable and the severity does not appear to be correlated with the proportion of cells that contain the additional chromosome. Ocular involvement in Trisomy 8 mosaicism has previously been described to include corneal opacities, retinal dystrophy, coloboma, and unilateral microphthalmia. We report a case of severe bilateral microphthalmia in a neonate with Trisomy 8 mosaicism, a previously unrecognized ophthalmic manifestation.

中文翻译：

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具有三体性8号镶嵌症的新生儿中的双侧严重微眼病：一个新发现

Mosaic Trisomy 8是一种罕见的染色体异常，估计每30,000个新生儿中就有一个发生。该表型是高度可变的，其严重程度似乎与包含额外染色体的细胞比例无关。先前已经描述了三体性8号镶嵌术的眼部受累包括角膜混浊，视网膜营养不良，眼球瘤和单侧微眼。我们报告了一例严重的双侧小眼症，该患儿患有Trisomy 8镶嵌症，这是以前无法识别的眼科表现。