Abstract
Cantrell's pentalogy (CP) is a rare, mainly sporadic spectrum of congenital midline thoracoabdominal defects that includes sternal anomalies, ventral diaphragmatic hernia, partial absence of the pericardium, supraumbilical abdominal wall defects, and congenital heart malformations. The approximate incidence is 1 in 100 000, with a 2:1 male predominance. A 25-year-old pregnant woman was referred to the Prenatal Diagnosis Unit of the University Hospital of Padua for multiple congenital malformations at 21 weeks of gestation. A level 2 ultrasound scan was performed and confirmed the presence of multiple anomalies compatible with the diagnosis of CP associated with complete ectopia cordis. Fetal autopsy furthermore revealed asplenia, which usually presents as part of the heterotaxia spectrum. To our knowledge, an association of CP and complete ectopia cordis with asplenia has never been reported so far.
| Original language | English |
|---|---|
| Pages (from-to) | 495-498 |
| Number of pages | 4 |
| Journal | Pediatric and Developmental Pathology |
| Volume | 15 |
| Issue number | 6 |
| DOIs | |
| Publication status | Published - Nov 2012 |
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Keywords
- Asplenia
- Cantrell's pentalogy
- Ectopia cordis
- Heterotaxia
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Pathology and Forensic Medicine
Cite this
Pentalogy of cantrell with complete ectopia cordis in a fetus with asplenia. / Ludwig, Kathrin; Salmaso, Roberto; Cosmi, Erich; Iaria, Loredana; De Luca, Alessandro; Margiotti, Katia; Citton, Valentina; Manara, Renzo; Rugge, Massimo.
In: Pediatric and Developmental Pathology, Vol. 15, No. 6, 11.2012, p. 495-498.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Pentalogy of cantrell with complete ectopia cordis in a fetus with asplenia
AU - Ludwig, Kathrin
AU - Salmaso, Roberto
AU - Cosmi, Erich
AU - Iaria, Loredana
AU - De Luca, Alessandro
AU - Margiotti, Katia
AU - Citton, Valentina
AU - Manara, Renzo
AU - Rugge, Massimo
PY - 2012/11
Y1 - 2012/11
N2 - Cantrell's pentalogy (CP) is a rare, mainly sporadic spectrum of congenital midline thoracoabdominal defects that includes sternal anomalies, ventral diaphragmatic hernia, partial absence of the pericardium, supraumbilical abdominal wall defects, and congenital heart malformations. The approximate incidence is 1 in 100 000, with a 2:1 male predominance. A 25-year-old pregnant woman was referred to the Prenatal Diagnosis Unit of the University Hospital of Padua for multiple congenital malformations at 21 weeks of gestation. A level 2 ultrasound scan was performed and confirmed the presence of multiple anomalies compatible with the diagnosis of CP associated with complete ectopia cordis. Fetal autopsy furthermore revealed asplenia, which usually presents as part of the heterotaxia spectrum. To our knowledge, an association of CP and complete ectopia cordis with asplenia has never been reported so far.
AB - Cantrell's pentalogy (CP) is a rare, mainly sporadic spectrum of congenital midline thoracoabdominal defects that includes sternal anomalies, ventral diaphragmatic hernia, partial absence of the pericardium, supraumbilical abdominal wall defects, and congenital heart malformations. The approximate incidence is 1 in 100 000, with a 2:1 male predominance. A 25-year-old pregnant woman was referred to the Prenatal Diagnosis Unit of the University Hospital of Padua for multiple congenital malformations at 21 weeks of gestation. A level 2 ultrasound scan was performed and confirmed the presence of multiple anomalies compatible with the diagnosis of CP associated with complete ectopia cordis. Fetal autopsy furthermore revealed asplenia, which usually presents as part of the heterotaxia spectrum. To our knowledge, an association of CP and complete ectopia cordis with asplenia has never been reported so far.
KW - Asplenia
KW - Cantrell's pentalogy
KW - Ectopia cordis
KW - Heterotaxia
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U2 - 10.2350/12-03-1169-CR.1
DO - 10.2350/12-03-1169-CR.1
M3 - Article
VL - 15
SP - 495
EP - 498
JO - Pediatric and Developmental Pathology
JF - Pediatric and Developmental Pathology
SN - 1093-5266
IS - 6
ER -