Pentalogy of Cantrell

Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g., PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the syndrome.

Also Known As:

Networked: 27 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Umbilical Hernia (Omphalocele)
2.	Ectopia Cordis
3.	Diaphragmatic Hernia
4.	Focal Dermal Hypoplasia (Syndrome, Goltz)
5.	Pentalogy of Cantrell

Experts

1.	Chen, Chih-Ping: 3 articles (06/2008 - 01/2007)
2.	Chia, Hui-Ling: 2 articles (01/2014 - 06/2012)
3.	Yeow, Vincent Kok-Leng: 2 articles (01/2014 - 06/2012)
4.	McMahon, Colin J: 2 articles (12/2013 - 05/2009)
5.	Smigiel, Robert: 2 articles (07/2011 - 05/2011)
6.	Hennekam, Raoul C: 2 articles (07/2011 - 05/2011)
7.	Lombardi, Maria Paola: 2 articles (07/2011 - 05/2011)
8.	Poncet, Cyrill: 1 article (07/2015)
9.	Benlloch-Gonzalez, Manuel: 1 article (07/2015)
10.	Assenga, Evelyne: 1 article (01/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Pentalogy of Cantrell:

1.	Sternal cleftIBA 07/01/2015 - "Sternal Cleft Associated with Cantrell's Pentalogy in a German Shepherd Dog." 01/01/2014 - "Repair of inferior sternal cleft using bilateral sternal bar turnover flaps in a patient with pentalogy of cantrell." 04/01/2009 - "Pentalogy of Cantrell is a rare syndrome characterized by 5 distinctive anomalies: epigastric omphalocele, sternal cleft, diaphragmatic defect, diaphragmatic pericardial defect, and intracardiac defect. " 01/01/1997 - "Two cases of sternal cleft, one with partial ectopia cordis, the other with Cantrell's pentalogy, are presented. "
2.	Carbon MonoxideIBA 01/01/2015 - "Pentalogy of Cantrell is a rare syndrome, first described by Cantrell and co-workers in 1958. " 05/01/2011 - "Co-occurrence of severe Goltz-Gorlin syndrome and pentalogy of Cantrell - Case report and review of the literature."
3.	Omphalocele exstrophy imperforate anusIBA 06/01/2007 - "Prenatal detection of an abdominal wall defect associated with multiple midline defects should alert one to the possibility of OEIS complex and pentalogy of Cantrell and prompt the genetic investigation and counseling of the disorders." 06/01/2007 - "This article provides a comprehensive review of OEIS complex and pentalogy of Cantrell, including the pathogenesis, prenatal diagnosis, differential diagnosis, and associated malformations. " 06/01/2007 - "Omphalocele is an important sonographic marker for OEIS complex and pentalogy of Cantrell. " 06/01/2007 - "Syndromes and disorders associated with omphalocele (II): OEIS complex and Pentalogy of Cantrell." 06/01/2008 - "This article provides a comprehensive review of syndromes, disorders, and maternal and fetal risk factors associated with NTDs, such as omphalocele, OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex, pentalogy of Cantrell, amniotic band sequence, limb-body wall complex, Meckel syndrome, Joubert syndrome, skeletal dysplasia, diabetic embryopathy, and single nucleotide polymorphisms in genes of glucose metabolism. "
4.	EctrodactylyIBA 01/01/2007 - "Prenatal diagnosis of pentalogy of Cantrell associated with hypoplasia of the right upper limb and ectrodactyly." 11/01/1998 - "Our case has overlapping features with conditions such as thoracoabdominal syndrome, pentalogy of Cantrell, and limb-body wall complex, but the concurrence of midline body wall defect and ectrodactyly has not been described previously."
5.	Tretinoin (Retinoic Acid)FDA LinkGeneric 01/01/2013 - "It is possible that perturbation of retinoic acid levels during development secondary to this microduplication could underlie the pathology observed in the current case of pentalogy of Cantrell." 01/01/2013 - "Among the genes within the duplicated region is ALDH1A2, encoding the enzyme retinaldehyde dehydrogenase type 2. Vital for retinoic acid synthesis during early development, ALDH1A2 has previously been demonstrated in animal models to have a strong association with congenital heart disease and diaphragmatic hernia, two key elements comprising pentalogy of Cantrell. "
6.	Retinaldehyde (Retinal)IBA 01/01/2013 - "Among the genes within the duplicated region is ALDH1A2, encoding the enzyme retinaldehyde dehydrogenase type 2. Vital for retinoic acid synthesis during early development, ALDH1A2 has previously been demonstrated in animal models to have a strong association with congenital heart disease and diaphragmatic hernia, two key elements comprising pentalogy of Cantrell. "
7.	Polyglycolic Acid (Polyglycolide)IBA 06/01/2012 - "Repair of ectopia cordis using a resorbable poly-L-lactic-polyglycolic acid plate in a patient with pentalogy of Cantrell."
8.	OxidoreductasesIBA 01/01/2013 - "Among the genes within the duplicated region is ALDH1A2, encoding the enzyme retinaldehyde dehydrogenase type 2. Vital for retinoic acid synthesis during early development, ALDH1A2 has previously been demonstrated in animal models to have a strong association with congenital heart disease and diaphragmatic hernia, two key elements comprising pentalogy of Cantrell. "
9.	Glucose (Dextrose)FDA LinkGeneric 06/01/2008 - "This article provides a comprehensive review of syndromes, disorders, and maternal and fetal risk factors associated with NTDs, such as omphalocele, OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex, pentalogy of Cantrell, amniotic band sequence, limb-body wall complex, Meckel syndrome, Joubert syndrome, skeletal dysplasia, diabetic embryopathy, and single nucleotide polymorphisms in genes of glucose metabolism. "
10.	Frontonasal dysplasiaIBA 11/01/1992 - "Pentalogy of Cantrell, ectopia cordis, and frontonasal dysplasia."

Therapies and Procedures

1.	Blalock-Taussig Procedure 11/01/1996 - "Two infants with pentalogy of Cantrell, 1 with a large omphalocele, died of fungal sepsis by 5 weeks of age, and 1 other died intraoperatively after repair of pulmonary venous confluence obstruction and right Blalock-Taussig shunt placement. "
2.	Transplants (Transplant) 01/01/2013 - "We describe a simple technique for chest wall reconstruction in pentalogy of Cantrell using split-thickness cartilage grafts. " 01/01/2013 - "Split-thickness cartilage grafts for chest wall reconstruction in pentalogy of Cantrell."
3.	Stents 12/01/2013 - "This represents the first report of transcatheter pulmonary stent implantation as a form of palliation in a child with pentalogy of Cantrell." 12/01/2013 - "Transcatheter right ventricular outflow tract stent implantation in a child with pentalogy of Cantrell, double outlet right ventricle, and severe pulmonary stenosis."
4.	Postoperative Care 05/01/2009 - "In conclusion, the postoperative care of children with pentalogy of Cantrell after cardiac surgery is often complicated by prolonged need for ventilatory support and multiple postoperative complications. "
5.	Pneumonectomy (Lung Volume Reduction) 03/01/1967 - "[On the thoracoabdominal syndrome after pneumonectomy]."