Chattopadhyay A, Kher A S, Udwadia A D, Sharma S V, Bharucha B A, Nicholson A D
Dept of Paediatrics, Seth GS Medical College, Parel, Bombay, Maharashtra.
J Postgrad Med. 1993 Oct-Dec;39(4):228-30.
Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.
弗雷泽综合征是一种罕见的疾病，印度文献中仅有少数病例报道。我们在此报告一例16岁原发性闭经患者，这是一种非常不寻常的表现形式。患者存在多种相关异常，包括眼睑、眉毛、面部、手指和生殖器异常。染色体分析显示为正常女性核型。垂体促性腺激素在正常范围内。
