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

Fraser syndrome.

Chattopadhyay A, Kher AS, Udwadia AD, Sharma SV, Bharucha BA, Nicholson AD.

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

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.

PMID:: 7996504; [PubMed - indexed for MEDLINE]

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