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The tricho-rhino-phalangeal syndrome
The British Journal of Dermatology
|April 1, 1977
Summary
Tricho-rhino-phalangeal syndrome (TRPS) is a rare genetic disorder. This study found characteristic skeletal abnormalities, cone-shaped epiphyses, in a family affected by TRPS, indicating its hereditary nature.
Area of Science:
- Genetics
- Pediatrics
- Skeletal Dysplasias
Background:
- Tricho-rhino-phalangeal syndrome (TRPS) is a rare genetic disorder characterized by specific facial and skeletal anomalies.
- The syndrome's inheritance pattern and full spectrum of clinical manifestations require further elucidation.