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Fraser syndrome

T Ozgünen1, C Evrüke, O Kadayifçi

  • 1Department of Obstetrics and Gynecology, Cukurova University Medical Faculty, Adana, Turkey.

International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics
|May 1, 1995
PubMed
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Fraser syndrome, a rare genetic disorder, was diagnosed in a fetus with severe developmental abnormalities including bilateral renal agenesis. This case highlights the importance of recognizing Fraser syndrome in prenatal diagnostics.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Prenatal Diagnosis

Background:

  • Consanguineous marriages increase the risk of autosomal recessive disorders.
  • Fraser syndrome is a rare genetic condition characterized by multiple congenital anomalies.
  • Prenatal diagnosis of Fraser syndrome is crucial for genetic counseling and management.

Purpose of the Study:

  • To report a case of Fraser syndrome diagnosed prenatally.
  • To describe the clinical features and diagnostic criteria of Fraser syndrome.
  • To emphasize the recurrence risk in affected families.

Main Methods:

  • Case report of a 32-week pregnant woman.
  • Antenatal ultrasound for fetal anomaly detection.
  • Clinical examination and diagnostic criteria for Fraser syndrome.

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Main Results:

  • Diagnosis of Fraser syndrome confirmed based on cryptophthalmos, auricular atresia, syndactyly, hypoplastic larynx, hypoplastic left lung, renal agenesis, and aberrant pancreas.
  • Intrauterine growth retardation was noted.
  • The syndrome is inherited as a recessive trait with a 25% recurrence risk.

Conclusions:

  • Fraser syndrome presents with a spectrum of severe congenital anomalies.
  • Early and accurate diagnosis is essential for genetic counseling and family planning.
  • Consanguinity is a significant risk factor for Fraser syndrome recurrence.