Cantrell’s Syndrome: A Challenge to the Surgeon

Vázquez-Jiménez, Jaime F.; Muehler, Eberhard G.; Daebritz, Sabine; Keutel, Juergen; Nishigaki, Kyoichi; Huegel, Werner; Messmer, Bruno J.

doi:10.1016/s0003-4975(98)00089-7

Cited by 120 publications

(146 citation statements)

References 14 publications

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“…Vazquez-Jimenez et al 4 , in an ample review of the literature, reported 153 cases of the syndrome in its complete or incomplete form.…”

Section: Discussionmentioning

confidence: 99%

“…Barrow and Willis 2 induced, with the use of beta-aminopropionitrile in an experimental model, ectopia cordis and gastroschisis. Defects in differentiation of the mesoderm may cause failure in cardiac levorotation, cardiac malformation, omphalocele, and defects in coaptation of the sternal band and ribs 1,4,5 .…”

Section: Discussionmentioning

confidence: 99%

“…In relation to cardiac anomalies, they occur in 83% of cases; interventricular communication is the most prevalent. Interventricular communication, ventricular diverticula, stenosis or pulmonary artery atresia, dextrocardia, anomalous left superior vena cava, anomalous pulmonary venous return, truncus arteriosus, ventricular aneurysm, and tetralogy of Fallot have a smaller incidence 1,4,5 .…”

Section: Discussionmentioning

confidence: 99%

“…However, controversies exist in the literature regarding the best surgical tactic 4 . Usually, the precocious correction of the defects is chosen, taking into consideration the gravity of the malformation 5 .…”

Section: Discussionmentioning

confidence: 99%

“…Correction of cardiac anomalies must be prioritized in patients with low cardiac output at the preoperative examination 6 . However, in patients where those malformations are not very expressive, surgical correction should focus on the omphalocele and diaphragmatic alterations because treatment when carried out first in infancy is technically easier and avoids the risk of external cardiac compression and pulmonary hypoplasia 4,6 . The ideal period for surgical correction of omphalocele depends on its size and the material contained 5 .…”

Section: Discussionmentioning

confidence: 99%

See 4 more Smart Citations

Cantrell Syndrome. Case report of an adult

Falcão¹,

Falcão²,

Sawicki³

et al. 2000

Arq. Bras. Cardiol.

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“…Vazquez-Jimenez et al 4 , in an ample review of the literature, reported 153 cases of the syndrome in its complete or incomplete form.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Cantrell Syndrome. Case report of an adult

Falcão¹,

Falcão²,

Sawicki³

et al. 2000

Arq. Bras. Cardiol.

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Co‐occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature

Śmigiel

Jakubiak

Lombardi

et al. 2011

American J of Med Genetics Pt A

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Goltz-Gorlin syndrome is a highly variable disorder affecting many body parts of meso-ectodermal origin. Mutations in X-linked PORCN have been identified in almost all patients with a classical Goltz-Gorlin phenotype. The pentalogy of Cantrell is an infrequently described congenital disorder characterized by the combination of five anomalies: a midline supra-umbilical abdominal wall defect; absent or cleft lower part of the sternum; deficiency of the diaphragmatic pericardium; deficiency of the anterior diaphragm; and congenital heart anomalies. Etiology and pathogenesis are unknown. We report on an infant with findings fitting both Goltz-Gorlin syndrome (sparse hair; anophthalmia; clefting; bifid nose; irregular vermillion of both lips; asymmetrical limb malformations; caudal appendage; linear aplastic skin defects; unilateral hearing loss) and the pentalogy of Cantrell (absent lower sternum; anterior diaphragmatic hernia; ectopia cordis; omphalocele). The clinical diagnosis Goltz-Gorlin syndrome was confirmed molecularly by a point mutation in PORCN (c.727C>T). The presence of molecularly confirmed Goltz-Gorlin syndrome and pentalogy of Cantrell in a single patient has been reported twice before. The present patient confirms that the pentalogy of Cantrell can be caused in some patients by a PORCN mutation. It remains at present uncertain whether this can be explained by the type or localization of the mutation within PORCN, or whether the co-occurrence of the two entities is additionally determined by mutations or polymorphisms in other genes, environmental factors, and/or epigenetic influences.

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Anterolateral congenital diaphragmatic hernia with omphalocele: A case report and literature review

Scahill

Maak

Kunder

2013

American J of Med Genetics Pt A

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The combination of congenital diaphragmatic hernia (CDH) and omphalocele is quite rare but can be seen in several syndromes. We report on a female newborn with this combination that had not been diagnosed prenatally. The patient suffered respiratory failure that persisted despite intensive care support, suggesting severe secondary pulmonary hypoplasia. Autopsy revealed the combination of an anterolateral CDH and omphalocele in the absence of other anomalies. We believe this to be the first such case to be reported in the literature.

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Cantrell’s Syndrome: A Challenge to the Surgeon

Cited by 120 publications

References 14 publications

Cantrell Syndrome. Case report of an adult

Cantrell Syndrome. Case report of an adult

Co‐occurrence of severe Goltz–Gorlin syndrome and pentalogy of Cantrell – Case report and review of the literature

Anterolateral congenital diaphragmatic hernia with omphalocele: A case report and literature review

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