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.
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / epidemiology
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / pathology*
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Adolescent
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Amenorrhea / etiology
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Eye Abnormalities / diagnosis
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Eye Abnormalities / epidemiology
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Eye Abnormalities / genetics
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Eye Abnormalities / pathology*
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Face / abnormalities*
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Female
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Genitalia, Female / abnormalities*
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Humans
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Skull / abnormalities*
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Syndactyly / diagnosis
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Syndactyly / epidemiology
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Syndactyly / genetics
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Syndactyly / pathology*
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Syndrome