Wilson W A, Alfi O S, Donnell G N
Ophthalmology. 1979 Jun;86(6):1184-90. doi: 10.1016/s0161-6420(79)35427-6.
Several cytogenetic syndromes are reviewed, and the salient ocular and facial abnormalities that might lead to a diagnosis are pointed out. Examples are given of mongoloid slant to the palpebral fissures, not only in Down's syndrome, but also in monosomy 9p, where, in addition, the triangular skull is almost diagnostic. Antimongoloid slant is found in trisomy 9p, where the eyes also have enophthalmos of monosomy 9p. Hypertelorism is another common finding in these syndromes; in monosomy 5p it is almost always present, although it occurs in other conditions as well, including trisomy 12p. The ring 22 syndrome has a distinguishing finding called "doe's eyes" because of the shape of the palpebral fissures. Trisomy 13 has numerous ocular findings as well as skull and facial involvements.
本文综述了几种细胞遗传学综合征，并指出了可能有助于诊断的显著眼部和面部异常。文中给出了一些例子，比如睑裂呈蒙古样倾斜，不仅在唐氏综合征中出现，在9p单体综合征中也有，此外，9p单体综合征中几乎可凭三角形头颅做出诊断。9p三体综合征中可见反蒙古样倾斜，其眼睛还具有9p单体综合征的眼球内陷表现。眼距过宽是这些综合征中的另一个常见表现；5p单体综合征中几乎总是存在眼距过宽，不过在其他情况中也会出现，包括12p三体综合征。22号环状染色体综合征有一个独特表现，因其睑裂形状被称为“母鹿眼”。13三体综合征有众多眼部表现以及颅骨和面部受累情况。
