第十三對三染色體是最常伴有嚴重先天性眼部病變的染色體異常。本篇報告一名男性嬰兒,在出生後即被發現有多方面的先天性異常,包括兔唇、顎裂、低位耳、頂枕部頭皮缺損、中度小頭畸形、斷掌、多指、隱睪、船形腳及先天性心臟病,眼部檢查發現有雙側小眼症、虹彩缺損及先天性白內障等,均為第十三對三染色體的典型表徵。
Trisomy 13 (Patau's syndrome) is the chromosomal aberration most closely associated with severe congenital ocular anomalies. We report a case of a male infant born with multiple congenital anomalies. Systemic presentations include cleft lip and palate, low-set ear, parietooccipital scalp defect, moderate microcephaly, Simian crease, polydactyly, cryptorchidism, rocker bottom feet, and congenital heart disease. Ocular findings include bilateral microphthalmia, iris colobomas, and congenital cataract. He is a typical case of trisomy 13 proved with chromosomal study.