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Cerebro-costo-mandibular syndrome

F B Plötz¹, A J van Essen, A N Bosschaart

¹Department of Pediatrics, Sophia Hospital, Zwolle, The Netherlands.

American Journal of Medical Genetics

|March 29, 1996

Summary

Cerebro-costo-mandibular syndrome (CCMS) is a rare disorder often presenting with Pierre Robin anomaly. Characteristic chest X-ray findings include posterior rib-gap defects, suggesting potential genetic heterogeneity.

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Area of Science:

Genetics
Pediatrics
Rare Diseases

Background:

Cerebro-costo-mandibular syndrome (CCMS) is a rare congenital disorder.
CCMS frequently presents with Pierre Robin anomaly, characterized by micrognathia, glossoptosis, and cleft palate.
Affected infants often experience respiratory insufficiency, necessitating medical intervention.