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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
PubMed
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.

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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.

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