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Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome?
R C Hennekam1, J Huber, D Variend
1Institute for Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Insights
Two Dutch siblings presented with Bartsocas-Papas syndrome, exhibiting severe internal and external anomalies including renal agenesis and esophageal atresia. A generalized epithelial defect is proposed as the likely cause.
Area of Science:
- Medical Genetics
- Developmental Biology
- Teratology
Background:
- Bartsocas-Papas syndrome is a rare congenital disorder characterized by specific external anomalies.
- Understanding the underlying pathogenesis is crucial for diagnosis and management.
Observation:
- Two Dutch siblings presented with features consistent with Bartsocas-Papas syndrome.
- One sibling had bilateral renal agenesis.
- The other sibling exhibited esophageal atresia, hypoplastic diaphragm, unilateral renal agenesis, penile shaft agenesis, and anal atresia.
Findings:
- The study details a unique combination of internal and external anomalies in the affected siblings.
- Pathogenetic mechanisms for this specific constellation of defects were explored.
- A generalized epithelial defect affecting epidermis and other lining epithelia is proposed as the unifying cause.
Implications:
- This finding may broaden the phenotypic spectrum of Bartsocas-Papas syndrome.
- The proposed epithelial defect offers a potential unifying hypothesis for complex congenital anomalies.
- Further research into epithelial development could elucidate mechanisms of similar birth defects.
Abstract:
We report on two Dutch sibs with external anomalies compatible with Bartsocas-Papas syndrome, who also had internal anomalies: bilateral renal agenesis in one, and esophageal atresia, hypoplastic diaphragma, unilateral renal agenesis, agenesis of the shaft of the penis, and anal atresia in the other patient. Several possible patterns for the pathogenesis of this combination of anomalies are discussed. We propose a generalized epithelial defect, affecting both epidermis and other lining epithelia, as the most probable cause in the present patients.