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Pentalogy of Cantrell

DA: 421




Developmental anomaly information

Definition: Pentalogy of Cantrell consists of an extensive defect of the thoracoabdominal wall,characterized by the association of five anomalies: omphalocele, cardiac ectopia(ectopia cordis), absence of the distal portion of the sternum, absence of the anterior diaphragm and absence of the parietal pericardium


Synonyms:

  • thoracoabdominal syndrome, "shagreen skin" pentalogy
  • Thoraco-abdominal ectopia cordis
  • Cantrell-Heller-Ravitch syndrome
  • pentalogy syndrome
  • peritoneopericardial diaphragmatic hernia


Developmental anomaly parent: (empty)

Topology: Human body > Thorax > Mediastinum > Anterior mediastinum

System: Human body > musculoskeletal system.

Developmental anomaly category: Polytopic field defect

Case records MDB10
Links

Humpath: Pentalogy of Cantrell

OMIM: 313850

DiseaseDB: 32984

Observed in MDB cases
Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :



Last modified: 2008-12-15 15:01:35 by farideh

Created: 2008-06-20 19:53:38 by farideh



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