Pentalogy of Cantrell
| Pentalogy of Cantrell | |
|---|---|
| Classification and external resources | |
| Specialty | medical genetics |
| OMIM | 313850 |
| DiseasesDB | 32984 |
Pentalogy of Cantrell (or thoraco-abdominal syndrome) is a rare[1] syndrome that causes defects involving the diaphragm, abdominal wall, pericardium, heart and lower sternum.
Its prevalence is less than 1 in 1000000[2].
It was characterized in 1958.[3]
A locus at Xq25-26 has been described.[4]
Presentation
The syndrome has five characteristic findings[5]:
- Omphalocele
- Anterior diaphragmatic hernia
- Sternal cleft with or without ectopia cordis
- Diaphragmatic pericardium defects (no diaphragmatic pericardium)
- Intracardiac defect: ventricular septal defect, diverticulum of the left ventricle, Tetralogy of Fallot
References
- ↑ Katranci AO, Görk AS, Rizalar R, et al. (1998). "Pentalogy of Cantrell". Indian J Pediatr. 65 (1): 149–53. PMID 10771959. doi:10.1007/BF02849710.
- ↑ RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Pentalogy of Cantrell". www.orpha.net. Retrieved 2017-07-29.
- ↑ CANTRELL JR, HALLER JA, RAVITCH MM (November 1958). "A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart". Surg Gynecol Obstet. 107 (5): 602–14. PMID 13592660.
- ↑ Parvari R, Weinstein Y, Ehrlich S, Steinitz M, Carmi R (February 1994). "Linkage localization of the thoraco-abdominal syndrome (TAS) gene to Xq25-26". Am. J. Med. Genet. 49 (4): 431–4. PMID 7909197. doi:10.1002/ajmg.1320490416.
- ↑ RISERVATI, INSERM US14 -- TUTTI I DIRITTI. "Orphanet: Pentalogia di Cantrell". www.orpha.net (in Italian). Retrieved 2017-07-29.
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