Gencik A, Genciková A
Acta Paediatr Hung. 1986;27(2):133-40.
Two sisters and one brother are reported with a complex of congenital malformations, hypertelorism, mental retardation, flattened nasal root, divergent strabism++, mongoloid palpebral fissures, malformations of the ears, pathologic alterations of the eye-fundus in terms of optic nerve atrophy, all suggesting Greig syndrome. The major symptom of this syndrome, the hypertelorism, varied considerably in its expressivity in the three siblings. This fact is normally taken into consideration in the diagnosis of Greig syndrome, but we suggest that an alteration in skull formation should be the criterion for the syndrome rather than extreme hypertelorism.
据报道，有两姐妹和一个兄弟患有先天性畸形综合征，表现为眼距过宽、智力发育迟缓、鼻根扁平、斜视++、内眦赘皮、耳部畸形以及眼底视神经萎缩等病理改变，所有这些都提示为Greig综合征。该综合征的主要症状——眼距过宽，在这三个兄弟姐妹中的表现程度差异很大。在Greig综合征的诊断中，这一事实通常会被考虑在内，但我们认为，颅骨形成的改变应作为该综合征的诊断标准，而非极度眼距过宽。
