Summary
Cantrell pentalogy consists of the following five features: midline supraumbilical abdominal wall defects; deficiency of the anterior diaphragm; defects in the diaphragmatic pericardium; defects of the lower sternum and congenital intracardiac defects. An evaluation of the prevalence of the pentalogy of Cantrell in the general population provided an estimate of 5.5 cases per 1 million live births. This combination of deformities involves midline structures, with exteriorisation of the heart, or 'ectopia cordis', as the most severe malformation. The cause has yet to be identified: although sporadic in most of the described infants, X-linked recessive inheritance was suggested for some families and genes located on the X-chromosome (Xq25-q26.1) may be involved in some of the reported cases. A kindred was reported in which five males related through women, had six different defects which were all either midline or midline-associated malformations: hydrocephalus, anencephaly, cleft lip, congenital heart defect, renal agenesis, and hypospadias. It was suggested that the midline may be a developmental field, and that a single gene mutation (in this instance on the X chromosome) led to the disrupted development. In terms of diagnosis, an omphalocele (especially when above the umbilicus) is an indication for further investigation for deformities in the spectrum of Cantrell's pentalogy, especially cardiac malformations and anterior diaphragmatic herniation. Intra-cardiac anomalies may be of any type, but tetralogy of Fallot or left ventricular diverticulum should prompt further evaluation for deformities associated with Cantrell's pentalogy. Several rare malformations have been reported in single cases: encephalocele, cystic hygroma colli, orofacial cleft, dysplastic kidney, agenesis of gallbladder and polysplenia. These additional signs, when present, may lead to earlier diagnosis if detected by ultrasound. The presence of a cardiac defect is the most important factor influencing morbidity and mortality.*Author: Orphanet (May 2004)*.
