Norio R, Raitta C, Lindahl E
Clin Genet. 1984 Jan;25(1):1-14. doi: 10.1111/j.1399-0004.1984.tb00456.x.
Six new patients with the Cohen syndrome are reported from Finland and 25 published cases from elsewhere are reviewed. New findings are consanguinity among two pairs of parents, granulocytopenia, and marked ophthalmological changes: decreased visual acuity, hemeralopia, constricted visual fields, chorioretinal dystrophy with bull's-eye-like maculae and pigmentary deposits, optic atrophy, and isoelectric electroretinogram. Previously known features of the Cohen syndrome (non-progressive mental retardation, short stature, microcephaly, peculiar facies, slender hands and feet, floppiness, delayed puberty) are confirmed or revised. The ophthalmological features merit attention in the previous and future suspected cases of the Cohen syndrome. Autosomal recessive inheritance can be taken for granted.
本文报告了来自芬兰的6例新发科恩综合征患者，并对其他地区已发表的25例病例进行了综述。新发现包括两对父母为近亲结婚、粒细胞减少症以及明显的眼科改变：视力下降、夜盲、视野缩窄、伴有靶心样黄斑和色素沉着的脉络膜视网膜营养不良、视神经萎缩以及视网膜电图等电位。科恩综合征先前已知的特征（非进行性智力发育迟缓、身材矮小、小头畸形、特殊面容、手脚细长、肌张力低下、青春期延迟）得到了确认或修正。在既往和未来疑似科恩综合征的病例中，眼科特征值得关注。可以认定为常染色体隐性遗传。
