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
Descripción
Sumario: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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