Pentalogy of cantrell with complete ectopia cordis in a fetus with asplenia.
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.
Department of Medicine (DIMED), Surgical Pathology and Cytopathology Unit, University of Padova, Padova, Italy.
Kathrin
K
Ludwig
Roberto
R
Salmaso
Erich
E
Cosmi
Loredana
L
Iaria
Alessandro
A
De Luca
Katia
K
Margiotti
Citton
C
Valentina
Renzo
R
Manara
Massimo
M
Rugge
D000025:Abortion, Eugenic; D000328:Adult; D004252:DNA Mutational Analysis; D054083:Ectopia Cordis / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D005865:Gestational Age; D006801:Humans; D058502:Pentalogy of Cantrell / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D011247:Pregnancy; D013154:Spleen / Q000002:abnormalities*; D016216:Ultrasonography, Prenatal