Newborn with Extensive Bart Syndrome
Bart syndrome is a rare genetic disorder characterized by the presence of mechanical fragility and a congenital localized absence of the skin. We share a case of a newborn presenting with aplasia cutis congenita, epidermolysis bullosa, and pyloric atresia, features consistent with Bart syndrome. The...
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Main Authors: | , |
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Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2024-12-01
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Series: | Indian Journal of Paediatric Dermatology |
Subjects: | |
Online Access: | https://journals.lww.com/10.4103/ijpd.ijpd_107_24 |
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Summary: | Bart syndrome is a rare genetic disorder characterized by the presence of mechanical fragility and a congenital localized absence of the skin. We share a case of a newborn presenting with aplasia cutis congenita, epidermolysis bullosa, and pyloric atresia, features consistent with Bart syndrome. The patient also exhibited other congenital defects, including a fused external auditory meatus, corneal cloudiness, an asymmetrical mandible, and bilateral undescended testes. |
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ISSN: | 2319-7250 2319-7269 |