2007
DOI: 10.1159/000098710
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Prenatal Sonographic Diagnosis of a Rare Cantrell’s Pentalogy Variant with Associated Open Neural Tube Defect – A Case Report

Abstract: Cantrell’s pentalogy is a very rare congenital anomaly. The hallmark of this condition is the presence of ectopia cordis and an abdominal wall defect. Its association with craniorachischisis is even more infrequent with just a few cases reported in the literature. The authors describe a case of a prenatal ultrasound diagnosis of Cantrell’s pentalogy with posterior encephalocele and spinal dysraphism associated.

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Cited by 12 publications
(6 citation statements)
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“…5 Intracardiac and various other anomalies have been reported in association with pentalogy of Cantrell, such as craniofacial and central nervous system anomalies, limb defects, and abdominal organ defects. 1,2,[6][7][8][9] In our case, unilateral club foot deformity and severe lumbar lordoscoliosis were associated with the low hypoplastic sternum, the herniated liver, EC, and the large omphalocele. There were no intracardiac anomalies and other organ defects.…”
Section: Discussionmentioning
confidence: 51%
“…5 Intracardiac and various other anomalies have been reported in association with pentalogy of Cantrell, such as craniofacial and central nervous system anomalies, limb defects, and abdominal organ defects. 1,2,[6][7][8][9] In our case, unilateral club foot deformity and severe lumbar lordoscoliosis were associated with the low hypoplastic sternum, the herniated liver, EC, and the large omphalocele. There were no intracardiac anomalies and other organ defects.…”
Section: Discussionmentioning
confidence: 51%
“…There are limited case reports about the combination of POC with neural tube defects [ 16 ]. As far as we know, this is the first report of coincidence of POC and MMC in a dizygotic twin pregnancy.…”
Section: Discussionmentioning
confidence: 99%
“…Other associations with PC include viral infections, maternal abuse of beta-aminopropionitrile, and chlorine inhalation. 3,7 Although the aetiology of PC remains unknown, the proposed mechanisms entail defects in embryogenesis around 14 to 18 days post-conception (during the splanchnic and somatic mesoderm divisions). As a result, the embryonic anomaly causes defective formation and differentiation of the ventral mesoderm.…”
Section: Surasak Puvabanditsin Valeria DI Stefano Eugene Garrow Ronalmentioning
confidence: 99%
“…3 Other associated anomalies have been reported, including craniofacial and central nervous system anomalies (such as cleft lip/palate, and encephalocele), hydrocephalus, craniorachisis, limb defects (clubbed foot, absence of tibia and radius, and hypodactyly), and abdominal organ defects (agenesis of the gall bladder and polysplenia). 3,7,8,10,11 Various diagnostic techniques are now available to screen for EC and PC. The prenatal diagnosis of these two defects is typically noted at the beginning of the second trimester; the earliest diagnosis was made at 10 weeks of gestation using Doppler sonography.…”
Section: Surasak Puvabanditsin Valeria DI Stefano Eugene Garrow Ronalmentioning
confidence: 99%