An infant with pentalogy of Cantrell and limb defects diagnosed prenatally

Uygur, Dilek; Kiş, Saime; Sener, Esin; Günçe, Sevil; Semerci, Nur

doi:10.1097/00019605-200401000-00018

Cited by 37 publications

(19 citation statements)

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“…The authors also reported on an affected fetus with Goltz-Gorlin syndrome and a limb-body wall complex [Maas et al, 2009]. There have been other cases with manifestations of both entities that were not molecularly confirmed [van Allen et al, 1987;Samson and Viljoen 1995;Pivnick et al, 1998;Uygur et al, 2004].…”

Section: Discussionmentioning

confidence: 96%

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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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Section: Discussionmentioning

confidence: 96%

“…Limb anomalies may show resemblance to those in Goltz-Gorlin syndrome are the most common objects in patients with pentalogy of Cantrell [Samson and Viljoen, 1995;Pivnick et al, 1998;Uygur et al, 2004]. Sporadically, the eye abnormalities such as anophthalmia were reported [Samson and Viljoen, 1995].…”

Section: Discussionmentioning

confidence: 99%

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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“…Likewise, VSD was not diagnosed in our case. Also, craniofacial and central nervous system anomalies, limb defects such as clubfoot, tibia, and radius agenesis, hypodactyly, and hypoplasia are the other associated anomalies [4, 5]. …”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Cantrell’s Pentalogy Associated with Agenesis of Left Limb in a Twin Pregnancy

Çakıroğlu

Döğer

Köpük

et al. 2014

Case Reports in Obstetrics and Gynecology

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Pentalogy of Cantrell is a rare malformation described in the literature. We report a case of pentalogy of Cantrell associated with left limb deficiency in a twin pregnancy. The fetus with multiple anomalies revealed kyphosis, ectopia cordis, and a large defect with protruding liver and bowel loops at 12 weeks and 3 days of gestational age on ultrasound scan. The other fetus was ultrasonographically normal. We diagnosed a case of pentalogy of Cantrell in a twin pregnancy after exclusion of limb body wall complex, body stalk anomaly, and amniotic band syndrome and after delivery of the fetuses. Macroscopic examinations were ectopia cordis, extrusion of the abdominal organs without membranes surrounding, and agenesis of the left limb.

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“…[12][13][14] Limb defects such as clubfoot, absent tibia or radius and hypodactyly were also absent. 15,16 Toyama MW (1972) described this rare syndrome in 3 classes: Class 1: Exact diagnosis with all five defects present. Class 2: Probably diagnosis with four defects (including intracardiac and anterior abdominal wall defects) present and Class 3: Incomplete diagnosis, with combination of defects where sterna defects is always present.…”

Section: Discussionmentioning

confidence: 99%

Complete Pentalogy of Cantrell: A case report and a review of literature

Shwe¹,

BO²,

Ogbu³

et al. 2014

IOSRJDMS

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An infant with pentalogy of Cantrell and limb defects diagnosed prenatally

Abstract: We present a case of pentalogy of Cantrell which was diagnosed prenatally on routine ultrasound examination. There were several associated limb defects. We discuss the differential diagnosis and conclude that our case probably had a variant form of this syndrome.

Cited by 37 publications

References 1 publication

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

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

Prenatal Diagnosis of Cantrell’s Pentalogy Associated with Agenesis of Left Limb in a Twin Pregnancy

Complete Pentalogy of Cantrell: A case report and a review of literature

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