{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:36:24Z","timestamp":1790472984985,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,4,11]],"date-time":"2011-04-11T00:00:00Z","timestamp":1302480000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Goltz\u2013Gorlin syndrome is a highly variable disorder affecting many body parts of meso\u2010ectodermal origin. Mutations in X\u2010linked <jats:italic>PORCN<\/jats:italic> have been identified in almost all patients with a classical Goltz\u2013Gorlin phenotype. The pentalogy of Cantrell is an infrequently described congenital disorder characterized by the combination of five anomalies: a midline supra\u2010umbilical 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\u2013Gorlin 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\u2013Gorlin syndrome was confirmed molecularly by a point mutation in <jats:italic>PORCN<\/jats:italic> (c.727C&gt;T). The presence of molecularly confirmed Goltz\u2013Gorlin 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 <jats:italic>PORCN<\/jats:italic> mutation. It remains at present uncertain whether this can be explained by the type or localization of the mutation within <jats:italic>PORCN<\/jats:italic>, or whether the co\u2010occurrence of the two entities is additionally determined by mutations or polymorphisms in other genes, environmental factors, and\/or epigenetic influences. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33895","type":"journal-article","created":{"date-parts":[[2011,4,11]],"date-time":"2011-04-11T15:03:43Z","timestamp":1302534223000},"page":"1102-1105","source":"Crossref","is-referenced-by-count":51,"title":["Co\u2010occurrence of severe Goltz\u2013Gorlin syndrome and pentalogy of Cantrell \u2013 Case report and review of the 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