Ruíz-Manjarrez A, Guillén-Añorve B, Núñez-Gómez R
Servicio de Pediatría, Genética y Oftalmología, Instituto Nacional de Salud Mental, México, D.F.
Bol Med Hosp Infant Mex. 1993 Aug;50(8):586-9.
We report a Mexican family with two members (mother and daughter) affected with blepharophimosis hereditary syndrome: ptosis of the eyelids, blepharospasm and epicanthus inversus. The daughter presented: hyperopia, astigmatism, hemispheric asymmetry, superficial mental deficiency and ovarian cyst. The mother with ophthalmological affectation, present too border line intellectual quotient. Clinical findings in this family illustrate autosomal dominant trait; differential diagnosis should be taken into account for genetic counselling.
我们报告了一个墨西哥家庭，其中两名成员（母亲和女儿）患有睑裂狭小遗传性综合征：眼睑下垂、眼睑痉挛和内眦赘皮。女儿表现出：远视、散光、半球不对称、轻度智力缺陷和卵巢囊肿。患有眼科疾病的母亲也存在边缘智商。这个家庭的临床发现说明了常染色体显性特征；在进行遗传咨询时应考虑鉴别诊断。
