Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient

Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who...

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Detalles Bibliográficos
Autores principales: Gengel, Natalie, Marshall, Ian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2017
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494441/
https://www.ncbi.nlm.nih.gov/pubmed/28706617
http://dx.doi.org/10.4081/pr.2017.6810
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author Gengel, Natalie
Marshall, Ian
author_facet Gengel, Natalie
Marshall, Ian
author_sort Gengel, Natalie
collection PubMed
description Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS.
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spelling pubmed-54944412017-07-13 Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient Gengel, Natalie Marshall, Ian Pediatr Rep Brief Report Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS. PAGEPress Publications, Pavia, Italy 2017-06-27 /pmc/articles/PMC5494441/ /pubmed/28706617 http://dx.doi.org/10.4081/pr.2017.6810 Text en ©Copyright N. Gengel and I. Marshall, 2017 http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Report
Gengel, Natalie
Marshall, Ian
Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient
title Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient
title_full Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient
title_fullStr Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient
title_full_unstemmed Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient
title_short Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient
title_sort rare presentation of neurofibromatosis and turner syndrome in a pediatric patient
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494441/
https://www.ncbi.nlm.nih.gov/pubmed/28706617
http://dx.doi.org/10.4081/pr.2017.6810
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