Pentalogy of Cantrell

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Pentalogy of Cantrell
Classification and external resources
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.

It was characterized in 1958.[2]

A locus at Xq25-26 has been described.[3]

Presentation[edit]

The syndrome has five characteristic findings:

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ 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.