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Related Experiment Videos

Cerebro-costo-mandibular syndrome

F N Silverman, A M Strefling, D K Stevenson

    The Journal of Pediatrics
    |September 1, 1980
    PubMed
    Summary

    Cerebro-costo-mandibular syndrome involves brain issues, rib deficiencies, and a small jaw. Diagnosis requires specific rib defects, and poor thoracic support leads to poor survival rates.

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    Area of Science:

    • Genetics and Developmental Biology
    • Pediatric Medicine
    • Medical Imaging

    Background:

    • Cerebro-costo-mandibular syndrome (CCMS) is a rare genetic disorder.
    • It is characterized by a distinct pattern of congenital anomalies.

    Observation:

    • Key features include cerebral maldevelopment, significant costal deficiencies, and micrognathia.
    • Cleft palate and glossoptosis frequently occur, leading to neonatal respiratory distress.
    • Intrauterine and postnatal growth retardation are commonly observed.

    Findings:

    • Deficiencies in the posterior aspect of ribs are essential for diagnosis, requiring radiographic confirmation.
    • The syndrome has been reported in 19 patients since its initial description in 1966.
    • Three new cases are presented, including one with radiographic-pathologic correlation.

    Implications:

    • Pulmonary complications arising from inadequate thoracic cage support significantly impact patient prognosis.
    • Early diagnosis and management are crucial for improving outcomes in affected infants.
    • Further research into the genetic basis and transmission patterns of CCMS is warranted.

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