Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient | Zendy

Natalie Gengel | Zendy; I. Howard Marshall | Zendy

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Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient

Author(s) -

Natalie Gengel,

I. Howard Marshall

Publication year - 2017

Publication title -

pediatric reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.297

H-Index - 19

ISSN - 2036-7503

DOI - 10.4081/pr.2017.6810

Subject(s) - neurofibromatosis , short stature , medicine , turner syndrome , presentation (obstetrics) , pediatrics , café au lait spot , growth hormone , dermatology , endocrinology , surgery , hormone , pathology

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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