Pentalogy of Cantrell
is a very rare syndrome that links with varying proportions of midline wall defects and congenital cardiac deformities1.
(2) EC with a midline supraumbilical abdominal-wall defect (omphalocele), caudosternal cleft, anterior diaphragmatic hernia along with pericardial and intracardiac defects constitute pentalogy of Cantrell
Pentalogy of Cantrell
(POC) is a congenital rare disorder characterized by several birth defects in the chest and abdominal area.
The thoracoabdominal type is regarded as distinct syndrome known as pentalogy of Cantrell
. It consists of five associated anomalies: distal sternum defect, midline supraumbilical abdominal wall defect, ventral diaphragmatic hernia, defect in the epical pericardium and free communication into the peritoneal cavity, and congenital intracardiac defect .
The condition encompasses variably sized 'simple' abdominal wall defects with no associated abnormalities, to those associated with a spectrum of congenitally acquired abnormalities that include BeckwithWiedemann syndrome, 'omphalocoele, extrophy, imperforate anus, spinal' (OEIS) complex and the pentalogy of Cantrell
. Advances in neonatal care have improved the survival of these neonates over the decades; however, their management is not yet standardised to reduce complications and provide a best outcome.
Emma's daughter, Milly, was born with a very rare condition called Pentalogy of Cantrell
- a condition characterised by a combination of defects involving the diaphragm, abdominal wall, pericardium (the thin membrane that lines the heart), lower sternum and the heart.
Tetralogy of fallot and atrial septal defects are the most common cardiac anomalies associated with exomphalos.[sup], Some syndromes associated with exomphalos are nonchromosomal disorders such as Beckwith–Wiedemann syndrome, pentalogy of Cantrell
, Charge syndrome, Marshall–Smith syndrome, Goltz syndrome, fetal valproate syndrome, and chromosomal genetic disorders such as trisomies 13, 14, 15, 18, or 21.[sup],
Anomalies which are according to the literature associated with Pentalogy of Cantrell
are: agenesis 1 of the corpus callosum, hydrocephalus, anencephaly, lip and palate cleft, fusion of the adrenal gland with liver, colon malrotation, clinodactily [9, 10], the absence of tibia and radius, polysplenia, underdevelopment of the gallbladder .
Keywords: Pentalogy of Cantrell
, Ectopia cordis, midline developmental anomalies
Se hizo busqueda en las bases de datos Medline via PubMed, Ovid, Hinari y Fabumed, utilizando las palabras clave: abdominal wall defects; omphalocele, gastrosquisis, diapragmatic hernia; OEIS complex, limb-body-wall complex; pentalogy of Cantrell
. Se evaluaron articulos en ingles y en espanol, para humanos, sin restriccion de fecha y con enfasis en el diagnostico diferencial y en criterios diagnosticos.