Literature DB >> 7996504

Fraser syndrome.

A Chattopadhyay1, A S Kher, A D Udwadia, S V Sharma, B A Bharucha, A D Nicholson.   

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.

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Year:  1993        PMID: 7996504

Source DB:  PubMed          Journal:  J Postgrad Med        ISSN: 0022-3859            Impact factor:   1.476


  4 in total

1.  Case report: hypodontia and short roots in a child with Fraser syndrome.

Authors:  E J Keene; P F Day
Journal:  Eur Arch Paediatr Dent       Date:  2011-08

Review 2.  Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.

Authors:  A M Slavotinek; C J Tifft
Journal:  J Med Genet       Date:  2002-09       Impact factor: 6.318

3.  Acquired (idiopathic) intradermal nevus with junctional activity presenting as clitoromegaly in a child: report of a case.

Authors:  Shramana Mandal; Kajal Dhingra; Parul Gupta; Nita Khurana
Journal:  Eur J Pediatr       Date:  2009-02-14       Impact factor: 3.183

4.  Idiopathic isolated clitoromegaly: A report of two cases.

Authors:  Eray Copcu; Alper Aktas; Nazan Sivrioglu; Ozgen Copcu; Yucel Oztan
Journal:  Reprod Health       Date:  2004-10-04       Impact factor: 3.223

  4 in total

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