Congenital diaphragmatic hernia in CHARGE syndrome
| Autor: | G. Casaccia, Pietro Bagolan, P. L. Seymandi, M. C. Digilio |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Hernia
Diaphragmatic medicine.medical_specialty Patient affected Genitourinary system business.industry Diaphragm Congenital diaphragmatic hernia Syndrome General Medicine medicine.disease Diaphragm (structural system) Surgery CHARGE syndrome Pediatrics Perinatology and Child Health Pediatric surgery medicine Humans Abnormalities Multiple Female Diaphragmatic hernia Hernias Diaphragmatic Congenital business Facial symmetry |
| Zdroj: | Pediatric Surgery International. 24:375-378 |
| ISSN: | 1437-9813 0179-0358 |
| Popis: | Congenital diaphragmatic hernia (CDH) has been rarely described in CHARGE syndrome. We report a patient affected by CHARGE syndrome presenting with a right-sided Bochdalek-type diaphragmatic hernia, and collect the pertinent literature. Furthermore, we review the embryogenesis of the diaphragm and the pathogenesis of CDH to highlight if this malformation could be explained by a developmental anomaly of CHARGE. On the basis of our study, we suggest that patients affected by CDH, facial asymmetry and cardiovascular or urogenital malformations, should be actively screened for CHARGE syndrome findings. |
| Databáze: | OpenAIRE |
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