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Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex
R A Martin1, C Cunniff, L Erickson
1Department of Pediatrics, University of California, San Diego.
Insights
Familial cases of sternal fusion defects, including Pentalogy of Cantrell and ectopia cordis, are reported for the first time in three brothers. This highlights a potential genetic component in these rare developmental abnormalities.
Area of Science:
- Developmental biology
- Medical genetics
- Congenital anomalies
Background:
- Sternal fusion defects are associated with anterior body wall defects, forming a developmental field complex.
- The Pentalogy of Cantrell and ectopia cordis are known manifestations of this complex.
- Previously, no familial occurrences of these conditions had been documented.
Observation:
- Three brothers were born consecutively with significant diaphragmatic defects.
- Two of the brothers were diagnosed with the Pentalogy of Cantrell.
- One of these two also presented with ectopia cordis.
Findings:
- This case series presents the first reported familial aggregation of sternal fusion defects and associated anomalies.
- The occurrence in three siblings suggests a potential genetic etiology for this developmental field complex.
- The spectrum of defects observed includes diaphragmatic defects, Pentalogy of Cantrell, and ectopia cordis.
Implications:
- These findings suggest a possible genetic predisposition or inherited factor in the etiology of sternal fusion defects and related anomalies.
- Further research into the genetic underpinnings of these developmental disorders is warranted.
- This case series may inform genetic counseling and risk assessment for families with a history of congenital body wall defects.
Abstract:
The association of sternal fusion defects with various cardiac, diaphragmatic, and anterior body wall defects represents a developmental field complex that includes the Pentalogy of Cantrell and ectopia cordis. No familial cases have been reported previously. We present 3 consecutively born brothers with extensive diaphragmatic defects, 2 who had the Pentalogy of Cantrell. One of the 2 also had ectopia cordis.