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[Cerebro-costo-mandibular syndrome. A case-report]
N Ech-Cherif El Kettani1, R Dafiri
1Service de radiologie pédiatrique, CHU d'Ibn-Sina, hôpital d'Enfants, Rabat, Maroc. najkett@hotmail.com
Summary
Cerebro-costo-mandibular syndrome is a rare congenital disorder causing rib malformations, micrognatia, and developmental issues. This severe condition often leads to early death from respiratory failure.
Area of Science:
- Medical Genetics
- Pediatric Medicine
- Congenital Disorders
Background:
- Cerebro-costo-mandibular syndrome (CCMS) is a rare, severe congenital disorder.
- It is characterized by posterior rib malformations, micrognathia, and mental deficiency.
- CCMS typically results in early mortality due to respiratory failure.
Observation:
- This report details a recent case observation of CCMS.
- Clinical and radiological features of the syndrome were documented.
Findings:
- The syndrome is characterized by severe posterior rib abnormalities.
- Micrognathia (underdeveloped jaw) and significant mental deficiency are key features.
- Respiratory failure is a common and often fatal complication in early infancy.
Implications:
- Early diagnosis and supportive care are critical for managing CCMS.
- Understanding the clinical spectrum aids in prognosis and genetic counseling.
- Further research into the etiology and potential treatments for CCMS is warranted.