Pentalogy of Cantrell
| Pentalogy of Cantrell | |
|---|---|
| Specialty | Medical genetics  |
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.
It was characterized in 1958.[2]
A locus at Xq25-26 has been described.[3]
Presentation
The syndrome has five characteristic findings:
- Omphalocele
- Anterior diaphragmatic hernia
- Sternal cleft
- Ectopia cordis
- Intracardiac defect: either a ventricular septal defect or a diverticulum of the left ventricle.
References
- ^ Katranci AO; Görk AS; Rizalar R; et al. (1998). "Pentalogy of Cantrell". Indian J Pediatr. 65 (1): 149–53. doi:10.1007/BF02849710. PMID 10771959.
{{cite journal}}: Unknown parameter|name-list-format=ignored (|name-list-style=suggested) (help) - ^ 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. doi:10.1002/ajmg.1320490416. PMID 7909197.