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Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field
1Clinical Genetics Unit, Soroka Medical Center, Ben Gurion University, Beer Sheva, Israel.
Insights
Pentalogy of Cantrell (PC) affects 5.5/million infants. This study suggests PC defines a specific midline developmental field, with cleft lip and palate associating with ventral midline anomalies.
Area of Science:
- Developmental biology
- Medical genetics
- Pediatric cardiology
Background:
- Pentalogy of Cantrell (PC) is a rare congenital disorder.
- Understanding the developmental field of PC is crucial for diagnosis and management.
Observation:
- A population-based study identified five cases of Pentalogy of Cantrell (PC).
- The regional prevalence of PC was determined to be 5.5 per million liveborn infants.
- Three of the five PC patients presented with cleft lip and/or palate.
Findings:
- The Pentalogy of Cantrell (PC) appears to define a specific ventral midline developmental field.
- Cleft lip with or without cleft palate and encephalocele show a specific association with ventral midline anomalies within the PC spectrum.
- These associations may indicate specific combinations of midline defects or defined subunits within the developmental field.
Implications:
- This research enhances understanding of the Pentalogy of Cantrell (PC) developmental field.
- Identifying specific associations can aid in predicting associated anomalies and improving patient outcomes.
- Further research into midline developmental fields could offer insights into other congenital anomalies.
Abstract:
Five cases of the Pentalogy of Cantrell (PC), ascertained through the Baltimore-Washington population-based study of infants with congenital cardiovascular malformations, represent a regional prevalence of 5.5/1 million liveborn infants for this disorder. Three of these patients had cleft lip with or without palate. Review of the reported literature of the Pentalogy of Cantrell and various combinations of the anomalies within the spectrum of this pentad suggests that the PC defines a specific midline ventral developmental field. Cleft lip with or without cleft palate and encephalocele tend to specifically associate with ventral midline anomalies within the spectrum of PC. These associations might either illustrate the previously observed tendency of specific occurrence of certain combinations of midline defects or represent defined subunits of the midline developmental field.