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Bart syndrome with associated anomalies
Bruce J Bart1, Richard C Lussky
1Department of Dermatology, Hennepin County Medical Center, Minneapolis, Minnesota 55415, USA.
American Journal of Perinatology
|October 11, 2005
Summary
Bart syndrome, a rare inherited skin disorder, can occur with pyloric atresia. This case highlights the importance of genetic counseling for families facing this rare congenital condition.
Area of Science:
- Medical Genetics
- Dermatology
- Pediatric Surgery
Background:
- Bart syndrome is a rare inherited disorder.
- It is characterized by epidermolysis bullosa and congenital skin absence.
- Pyloric atresia is a known associated anomaly.
Observation:
- This report details a case of Bart syndrome.
- The patient also presented with pyloric atresia.
- This unusual association was further investigated.
Findings:
- Bart syndrome is linked to chromosome 3.
- It follows an autosomal dominant inheritance pattern.
- The co-occurrence of Bart syndrome and pyloric atresia is rare but documented.
Implications:
- Early diagnosis and genetic counseling are crucial for affected families.
- Anticipatory guidance can improve management strategies.
- Further research into the genetic underpinnings of Bart syndrome and associated anomalies is warranted.