弗雷泽综合征

Fraser syndrome.

作者信息

Chattopadhyay A, Kher A S, Udwadia A D, Sharma S V, Bharucha B A, Nicholson A D

机构信息

Dept of Paediatrics, Seth GS Medical College, Parel, Bombay, Maharashtra.

出版信息

J Postgrad Med. 1993 Oct-Dec;39(4):228-30.

Abstract

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.

摘要

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。

相似文献

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Fraser syndrome.弗雷泽综合征

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Fraser syndrome with bladder pseudoexstrophy.伴有膀胱假性外翻的弗雷泽综合征

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Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks.孕18.5周时对弗雷泽综合征进行产前诊断，孕19周时进行尸检结果分析。

Am J Med Genet. 1990 Dec;37(4):583-91. doi: 10.1002/ajmg.1320370433.

7

Intrafamilial variability in Fraser syndrome.弗雷泽综合征的家族内变异性。

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8

[Fraser syndrome, renal agenesis and fetal ascites].[弗雷泽综合征、肾缺如与胎儿腹水]

An Esp Pediatr. 1993 Aug;39(2):163-6.

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[Renal agenesis and the Fraser syndrome: 4 observations].[肾缺如与弗雷泽综合征：4例观察]

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Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia.

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Case report: hypodontia and short roots in a child with Fraser syndrome.病例报告：一名患有弗雷泽综合征儿童的牙齿发育不全和牙根短小

Eur Arch Paediatr Dent. 2011 Aug;12(4):216-8. doi: 10.1007/BF03262810.

2

Acquired (idiopathic) intradermal nevus with junctional activity presenting as clitoromegaly in a child: report of a case.一名儿童出现阴蒂肥大，表现为具有交界活性的后天性（特发性）真皮内痣：病例报告

Eur J Pediatr. 2009 Nov;168(11):1405-7. doi: 10.1007/s00431-009-0938-8. Epub 2009 Feb 14.

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Idiopathic isolated clitoromegaly: A report of two cases.特发性孤立性阴蒂肥大：两例报告。

Reprod Health. 2004 Oct 4;1(1):4. doi: 10.1186/1742-4755-1-4.

4

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.弗雷泽综合征与隐眼畸形：复杂畸形综合征诊断标准及表型模块证据综述

J Med Genet. 2002 Sep;39(9):623-33. doi: 10.1136/jmg.39.9.623.

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