Yildirim M S, Zamani A G, Bozkurt B
Department of Genetics, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
Genet Couns. 2012;23(2):169-74.
Warburg Micro syndrome (WMS) was first reported by Warburg in 1993. The cardinal features are microcephaly, microphthalmia, congenital cataract and intellectual disability. We report on two children from a highly inbred family with microcephaly, congenital cataract, optic atrophy, hypotonia and severe psychomotor retardation. This phenotype is similar to other reported rare entities and especially to the family reported by Warburg. Four other children in the same family may also have been affected. In this report, the symptoms and features of our cases are compared with the Warburg Micro syndrome patients in literature.
瓦尔堡微综合征（WMS）于1993年由瓦尔堡首次报道。主要特征为小头畸形、小眼症、先天性白内障和智力残疾。我们报告了来自一个高度近亲结婚家庭的两名儿童，他们患有小头畸形、先天性白内障、视神经萎缩、肌张力减退和严重的精神运动发育迟缓。这种表型与其他报道的罕见病症相似，尤其是与瓦尔堡报道的家族相似。同一家庭中的另外四名儿童可能也受到了影响。在本报告中，我们将病例的症状和特征与文献中瓦尔堡微综合征患者进行了比较。
