Cyclopia in Association with Trisomy D, Polydactyly, Accessory Spleen, and Meckel's Diverticulum

併有Trisomy D，多指（趾）症，副脾，和美克耳憩室的獨眼畸形兒之一例

洪伯良(Po-Liang Hung) ； 黃金江(Chin-Chiang Huang) ； 陳定堯(Ting-Yao Chen)

《Acta Paediatrica Sinica》 15卷1期 (1974/03) Pp. 6-9

摘要

我們於1973年5月22日在臺北市立仁愛醫院遇見一位獨限畸形的新生女嬰。在病人鼻骨上方有一個眼窩，在此眼窩的上方，卽在前額下部中央處有一條象鼻樣的管狀附屬物，左手和雙足各有多指（趾）畸形。染色體檢查發現有Trisomy D (47, XX D+)異常。解剖檢查除了腦、眼、鼻、手、足、等處有異常外，並發現有兩個副脾，且在廻腸處有一個美克耳氏憩室。
獨眼畸形是一種很少見的先天性畸形，併有Trisomy D染色體異常的獨眼畸形症更為罕見，在文獻上能找到的報告至今只有三例而已。

並列摘要

Cyclopia is a rare congenital malformation characterized by the presence of a single orbital cavity in the area normally occupied by the root of the nose, and of a proboscis-like appendage located on the lower part of the forehead just above this cavity. There are three reports in known literature describing trisomy D in cyclopia^(1~3). This report identifies a case of cyclopia in a female newborn, in association with trisomy D (47, XX D+), polydactyly, two accessory spleens and a small Meckel's diverticulum in ileum.