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The Coffin-Siris syndrome in two siblings
Pediatric Radiology
|January 1, 1986
Summary
Two sisters with Coffin-Siris syndrome, a rare genetic disorder, were studied. This research confirms the autosomal recessive inheritance pattern and highlights new radiological features of the condition.
Area of Science:
- Genetics
- Pediatrics
- Radiology
Background:
- Coffin-Siris syndrome is a rare genetic disorder with characteristic facial and developmental features.
- The inheritance pattern of Coffin-Siris syndrome has been proposed but requires further confirmation.
- Detailed radiological evaluation can aid in understanding the phenotypic spectrum of genetic disorders.