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Published on: March 23, 2022
Bart's Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia
Muhammad Saeed1, Anwar Ul Haq1, Khaqan Qadir2
1King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
Objective:
Bart's syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. A newborn with Bart's syndrome is reported because it is a very rare condition, especially when associated with corpus callosum agenesis and concomitant choanal atresia. Clinically it is characterized by raw beefy areas of denuded skin mainly on hands and feet. We report a rare case of a term female newborn born to non-consanguineous parents who presented with congenital absence of skin in, face, trunk and extremities. To the best of our knowledge, this is the first report presenting a case of Bart's syndrome associated with corpus callosum agenesis.
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