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Review
. 2023 Sep;191(9):2411-2415.
doi: 10.1002/ajmg.a.63317. Epub 2023 Jun 14.

Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1

Ekanem N Ekure  1 , Kareem O Musa  2 , Ngozi Ulonnam  3 , Paul Kruszka  4   5 , Maximilian Muenke  4   6 , Adebowale A Adeyemo  7
Affiliations
Review

Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1

Ekanem N Ekure et al. Am J Med Genet A. 2023 Sep.

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.

Keywords: Neurofibromatosis 1; ambiguous genitalia; case report; giant congenital melanocytic nevus; subpulmonic outlet ventricular septal defect.

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References

REFERENCES

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