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pentalogy of Cantrell

MIM.313850

Monday 19 December 2005

Definition: The Pentalogy of Cantrell is a rare congenital anomaly characterized by defects in the closing of the supraumbilical abdominal wall, in the anterior portion of the diaphragm, in the diaphragmatic pericardium, ectopia cordis, and intracardiac defects.

It associates diaphragmatic and ventral hernias, hypoplastic lung, and cardiac anomalies such as transposition of the great vessels and patent ductus arteriosus. It may be associated to other anomalies determining the variants of this syndrome.

Pentalogy of Cantrell:

- 1. defects in the closing of the supraumbilical abdominal wall
- 2. defects in the anterior portion of the diaphragm and in the diaphragmatic pericardium
- 3. sternal defects
- 4. ectopia cordis
- 5. cardiac malformations

Synopsis

- polyhydramnios

- craniofacial anomalies

- diaphragmatic hernia
- sternal fusion defects

- cardiovascular malformations

- thoracic anomalies

  • agenesis of the sternum
  • agenesis of anterior rib cage
  • membranous diaphragm with eventration of the viscera
  • ectopia cordis with absence of the pericardium
  • hypoplastic lung

- abdominal anomalies

  • ventral hernia
  • omphalocele

- urogenital malformations

- hydrocephalus

- cerebrospinal malformations

- limb anomalies

  • clubfoot
  • clubhand
  • sirenomelia (8397575)

Etiology

- X-linked Cantrell pentalogy (or X-linked midline defect) (Xq25-q26.1)
- trisomy 18 (3232702)

Associations

- hypoplasia of the right upper limb (17154221)
- ectrodactyly (17154221)

Case records

- Case #10182

See also

- sternal fusion defects

  • sternal cleft

References

- Chen CP, Hsu CY, Tzen CY, Chern SR, Wang W. Prenatal diagnosis of pentalogy of Cantrell associated with hypoplasia of the right upper limb and ectrodactyly. Prenat Diagn. 2007 Jan;27(1):86-7. PMID: 17154221

- Polat I, Gul A, Aslan H, Cebeci A, Ozseker B, Caglar B, Ceylan Y. Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis. J Clin Ultrasound. 2005 Jul-Aug;33(6):308-11. PMID: 16134161

- Correa-Rivas MS, Matos-Llovet I, Garcia-Fragoso L. Pentalogy of Cantrell: a case report with pathologic findings. Pediatr Dev Pathol. 2004 Nov-Dec;7(6):649-52. PMID:15630538

- Fox JE, Gloster ES, Mirchandani R. Trisomy 18 with Cantrell pentalogy in a stillborn infant. Am J Med Genet. 1988 Oct;31(2):391-4. PMID: 3232702

- Cantrell, J. R.; Haller, J. A.; Ravitch, M. M. : A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium and heart. Surg. Gynec. Obstet. 107: 602-614, 1958. PubMed ID : 13592660

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