Pentalogy of Cantrell

Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.

Hemangioma

A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma).


Total: 2

                      


(per page)
PMID (PMCID)
26456118
MALE Child
Complete sternal cleft associated with right clavicular, manubrial, and thyroid hypoplasia, pectus deformity, and spinal anomalies.
Golden ET, Alazraki A, Loewen J, Braithwaite K.
Clin Imaging. 2016;40(1):174-6.
Associated anomalies include pentalogy of Cantrell and posterior fossa abnormalities, hemangiomas, arteriopathy, cardiac anomalies, eye abnormalities, and sternal defects syndrome.
15810010
MIXED_SAMPLE Middle Aged
Midline raphe, sternal cleft, and other midline abnormalities: a new dominant syndrome?
Forzano F, Daubeney PE, White SM.
Am J Med Genet A. 2005;135(1):9-12.
An association with multiple malformations has been reported, in particular with midline raphe and craniofacial hemangiomas and as part of the pentalogy of Cantrell.