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Fibrochondrogenesis: clinical and radiological features
L I al-Gazali1, D Bakalinova, M Bakir
1Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates. paed@medic.uaeu.ac.ae
Clinical Dysmorphology
|April 1, 1997
Summary
This study details a rare case of fibrochondrogenesis, a lethal bone dysplasia, in an Omani child. It highlights the condition's distinct facial and radiological features, adding to the limited global cases.
Area of Science:
- Pediatrics
- Genetics
- Radiology
Background:
- Fibrochondrogenesis is an extremely rare and lethal skeletal dysplasia.
- Previous reports of this condition are limited, with only seven cases documented globally.
- The condition presents with characteristic facial dysmorphia and skeletal abnormalities.