Newborn with Extensive Bart Syndrome
Abstract 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.
Authors
- Mariam AlAfeefi (ORCID: https://orcid.org/0000-0001-6411-0995)
- Meera Aladawi
Institutions
- Shaikh Khalifa Medical City (AE)
Publication Details
- Journal
- Indian Journal of Paediatric Dermatology
- Published
- 2024-10-01
- DOI
- https://doi.org/10.4103/ijpd.ijpd_107_24
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00