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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. |