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Fraser syndrome

A Chattopadhyay1, A S Kher, A D Udwadia

  • 1Dept of Paediatrics, Seth GS Medical College, Parel, Bombay, Maharashtra.

Journal of Postgraduate Medicine
|October 1, 1993
PubMed
Summary
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Fraser Syndrome, a rare genetic disorder, presented unusually in a 16-year-old Indian female with primary amenorrhea and multiple congenital anomalies. This case highlights the varied clinical manifestations of Fraser Syndrome.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Fraser Syndrome is a rare congenital disorder characterized by cryptophthalmos and syndactyly.
  • Few cases have been documented in Indian literature, making local data scarce.

Observation:

  • A 16-year-old female presented with primary amenorrhea, an atypical initial symptom for Fraser Syndrome.
  • The patient exhibited multiple dysmorphic features affecting the eyelids, eyebrows, face, digits, and genitalia.

Findings:

  • Karyotype analysis confirmed a normal female karyotype (46,XX).
  • Pituitary gonadotropin levels were within the normal range, suggesting the amenorrhea was not due to primary hypogonadism.

Implications:

  • This case expands the known spectrum of Fraser Syndrome presentations, particularly in adolescent females.

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  • It underscores the importance of considering rare genetic disorders in the differential diagnosis of primary amenorrhea with congenital anomalies.