一名儿科患者中神经纤维瘤病和特纳综合征的罕见表现。
Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient.
作者信息
Gengel Natalie, Marshall Ian
机构信息
Department of Pediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, USA.
出版信息
Pediatr Rep. 2017 Jun 27;9(2):6810. doi: 10.4081/pr.2017.6810. eCollection 2017 Jun 26.
Abstract
Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with 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.
摘要
1型神经纤维瘤病（NF1）的经典诊断标准之一是存在多个斑疹。特纳综合征（TS）也可能出现斑疹并伴有身材矮小。我们的患者是报告的第五例同时患有NF1和TS的病例，也是首例因TS相关身材矮小而接受生长激素治疗的患者。
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