title: Pentalogy or hexalogy of Cantrell?
abstract: Pentalogy of Cantrell (PC) is a rare congenital syndrome involving the abdominal wall, sternum, diaphragm, pericardium, and heart. The embryonic period in which PC develops coincides with that of umbilical cord (UC) formation. The aim of the following study was to address the question of whether PC is associated with UC pathologies. Four cases, prenatally identified between 2002 and 2008, were enrolled in this study. Umbilical cord pathologies defined as single umbilical artery, short cord, or UC with atypical coiling pattern were retrospectively assessed on stored ultrasound images and from autopsy reports. The literature regarding PC and UC pathologies was reviewed. Three singleton pregnancies and 1 monoamniotic twin pregnancy with twin reversed arterial perfusion sequence were reviewed. All had a normal karyotype. Three showed the classical PC stigmata, with ectopia cordis. One fetus had no ectopia cordis; this case had a normal UC, whereas all others fetuses showed a short UC with atypical coiling pattern. Of 26 publications dealing with PC, the UC was described in only 8 cases, 7 of which were abnormal. There seems to be a strong correlation between the PC and UC abnormalities, in particular in cases with ectopia cordis. We speculate that the insult leading to the classical malformations of PC and UC abnormalities is the same or the sequence of malformations itself may alter the early fetoplacental blood flow and therefore the normal development of the UC angioarchitecture.
authors.affiliation: Department of Obstetrics and Gynecology, University of Berne-Inselspital, Switzerland. mullerbrochut@gmail.com
authors.forename: Anne-Claude Müller
authors.initials: AC
authors.lastname: Brochut
authors.forename: Marc U
authors.initials: MU
authors.lastname: Baumann
authors.forename: Annette
authors.initials: A
authors.lastname: Kuhn
authors.forename: Eduardo
authors.initials: E
authors.lastname: Di Naro
authors.forename: Boris
authors.initials: B
authors.lastname: Tutschek
authors.forename: Daniel
authors.initials: D
authors.lastname: Surbek
authors.forename: Luigi
authors.initials: L
authors.lastname: Raio
mesh_terms: D034861:Abdominal Wall / Q000002:abnormalities*; D000015:Abnormalities, Multiple / Q000473:pathology; D000328:Adult; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D010496:Pericardium / Q000002:abnormalities*; D011247:Pregnancy; D059285:Pregnancy, Twin; D013249:Sternum / Q000002:abnormalities*; D013577:Syndrome; D014470:Umbilical Cord / Q000002:abnormalities*; D055815:Young Adult