Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1
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Date
2023-06-14
Authors
Ekure, E. N.
Musa, K. O.
Ulonnam, N.
Kruszka, P.
Muenke, M.
Adeyemo, A. A,
Journal Title
Journal ISSN
Volume Title
Publisher
John Wiley Publishers
Abstract
Neurofibromatosis type 1 is an autosomal dominant multisystemic disease caused by mutation of the neurofibromin (NF1) gene located on chromosome 17q11. We report a case of Neurofibromatosis 1 with ambiguous genitalia, giant congenital melanocytic nevus, and associated subpulmonic outlet ventricular septal defect, hitherto unreported in sub-Saharan Africa. In addition, a literature review of congenital heart diseases associated with Neurofibromatosis 1 is presented.
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Scholarly article
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Citation
Ekure, E. N., Musa, K. O., Ulonnam, N., Kruszka, P., Muenke, M., & Adeyemo, A. A. (2023). Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1. American journal of medical genetics. Part A, 10.1002/ajmg.a.63317. Advance online publication. https://doi.org/10.1002/ajmg.a.63317