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Intracranial calcification in Raine syndrome
K A Al Mane1, R K Coates, P McDonald
1Department of Radiology, MBC 28, King Faisal Specialist Hospital and Research Centre, P. O. Box 3354, Riyadh 11211, Saudi Arabia.
Pediatric Radiology
|January 1, 1996
Summary
This study details the fourth documented case of Raine syndrome, a lethal bone disorder. It highlights the connection between this condition and intracranial calcifications visible via ultrasound and CT scans.
Area of Science:
- Medical Genetics
- Skeletal Dysplasias
- Radiology
Background:
- Raine syndrome is a rare, lethal autosomal recessive congenital sclerosing bone dysplasia characterized by severe skeletal abnormalities.
- It is associated with a high mortality rate, often resulting in stillbirth or neonatal death.
- Previous cases have described various phenotypic features, but the association with intracranial calcification requires further elucidation.