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Cerebro-costo-mandibular syndrome
Insights
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.
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.
Abstract:
The cerebro-costo-mandibular syndrome is characterized by cerebral maldevelopment or malfunction or both, costal deficiencies, and micrognathia. Cleft palate and glossoptosis are frequently present and contribute to the common presenting sign, neonatal respiratory distress. Intrauterine and postnatal growth retardation are common. Familial cases are rare and the mode of transmission is uncertain. The deficiencies in the posterior portion of affected ribs are the sine qua non for diagnosis; roentgenographic confirmation is required. Since the first description of this pattern of prenatal growth defect in 1966, 19 patients who fulfill the criteria for diagnosis have been reported. We present three additional cases, one of which includes roentgenographic-pathologic correlations, and summarize the combinations of features present in previously described cases. Pulmonary complications incident to lack of thoracic cage support result in poor prognosis for survival.