pentalogy of Cantrell

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

• cleft palate
• cleft lip/palate
• cystic hygroma

 diaphragmatic hernia
 sternal fusion defects

 cardiovascular malformations

• transposition of the great vessels
• patent ductus arteriosus
• ectopia cordis
• cardiac malformations (congenital heart defect)
  • tetralogy of Fallot (TOF)
  • double-outlet left ventricle (15875742)

 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

• renal agenesis
• hypospadias

 hydrocephalus

 cerebrospinal malformations

• craniorachischisis (16134161)
• completely open spine (spinal dysraphism)
• open cranial defect
  • anencephaly
  • exencephaly (8046047)

 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