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Cerebro-costo-mandibular syndrome.

C T Lim¹, M T Koh

¹Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

Australasian Radiology

|May 1, 1992

Summary

Cerebro-costo-mandibular syndrome (CCM) is a rare disorder with severe micrognathia and rib defects. This case highlights the critical respiratory challenges and feeding difficulties associated with CCM.

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Area of Science:

Genetics and Rare Diseases
Pediatric Medicine
Craniofacial Anomalies

Background:

Cerebro-costo-mandibular syndrome (CCM) is an exceptionally rare congenital disorder.
It shares significant oro-facial characteristics with the Pierre Robin anomaly.
Understanding CCM is crucial for early diagnosis and management of affected infants.

Observation:

A patient presented with hallmark CCM features: severe micrognathia, glossoptosis, and a central cleft soft palate.
Radiographic imaging revealed multiple posterior rib-gap defects.
Neonatal respiratory distress was managed with an oro-pharyngeal airway.

Findings:

The described case exemplifies the typical clinical presentation of Cerebro-costo-mandibular syndrome.
The patient experienced cardiorespiratory arrest, likely due to feeding-related aspiration.
Timely intervention, such as tracheostomy, may be critical for survival.

Implications:

This case underscores the severe respiratory and feeding complications associated with CCM.
Early recognition and proactive management of airway and swallowing issues are paramount.
Further research into CCM pathogenesis and treatment strategies is warranted.

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