Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1-Reference-Cited by-同舟云学术

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

Published:2023-06-14 Issue:9 Volume:191 Page:2411-2415
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Ekure Ekanem N.¹^ORCID,Musa Kareem O.²,Ulonnam Ngozi³,Kruszka Paul⁴⁵^ORCID,Muenke Maximilian⁴⁶,Adeyemo Adebowale A.⁷^ORCID

Affiliation:

1. Department of Paediatrics, College of Medicine University of Lagos & Lagos University Teaching Hospital Idi‐Araba Lagos Nigeria

2. Department of Ophthalmology, College of Medicine University of Lagos & Lagos University Teaching Hospital Idi‐Araba Lagos Nigeria

3. Department of Paediatrics Lagos University Teaching Hospital Idi‐Araba Lagos Nigeria

4. Medical Genetics Branch, National Human Genome Research Institute The National Institutes of Health Bethesda Maryland USA

5. GeneDx Gaithersburg Maryland USA

6. American College of Medical Genetics and Genomics 7101 Wisconsin Ave Suite 1101, Bethesda Maryland USA

7. Center for Research on Genomics and Global Health, National Human Genome Research Institute The National Institutes of Health Bethesda Maryland USA

Abstract

AbstractNeurofibromatosis 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.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63317

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