Related Experiment Videos
Fetal mucolipidosis II (I-cell disease): radiologic and pathologic correlation
Pediatric Radiology
|January 1, 1986
Summary
Prenatal diagnosis of I-cell disease is possible through enzyme analysis and ultrasound. This rare genetic disorder causes severe skeletal abnormalities detectable in fetal development.
Area of Science:
- Medical Genetics
- Skeletal Dysplasias
- Prenatal Diagnosis
Background:
- I-cell disease (mucolipidosis II) is a severe lysosomal storage disorder.
- Previous diagnosis in a sibling prompted fetal evaluation.