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Fraser syndrome with limb reduction defect: a rare and unique anatomic variation
Mishu Mangla1, Ariyanachi Kaliappan2, Annapurna Srirambhatla3
1Department of Obstetrics & Gynaecology, All India Institute of Medical Sciences, Bibinagar, Hyderabad, India.
Surgical and Radiologic Anatomy : SRA
|February 3, 2024
Summary
Fraser syndrome, a rare genetic disorder, can present with severe fetal anomalies including renal agenesis and eye malformations. Early diagnosis through clinical evaluation and autopsy is crucial for affected infants.
Area of Science:
- Medical Genetics
- Fetal Medicine
- Pediatric Pathology
Background:
- Fraser syndrome is an autosomal recessive disorder with variable phenotypes.
- It can cause severe anomalies like renal agenesis, often incompatible with life.
- Limb reduction defects have not been previously associated with Fraser syndrome.
Keywords:
CryptophthalmosFetal autopsyFraser syndromeLimb reduction defectOligohydramniosPrenatal detectionRenal agenesisSyndactyly
