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.

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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
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article

Newborn with Extensive Bart Syndrome

Mariam AlAfeefi, Meera Aladawi
Indian Journal of Paediatric Dermatology
Neurogenetic and Muscular Disorders Research
article

Newborn with Extensive Bart Syndrome

Mariam AlAfeefi, Meera Aladawi
article en

Abstract

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.

Indian Journal of Paediatric DermatologyVol. 25(4)
Shaikh Khalifa Medical City (AE)
Openalex Percentile: Top 56%
Neurogenetic and Muscular Disorders Research
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