Literature DB >> 28706617

Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient.

Natalie Gengel1, Ian Marshall1.   

Abstract

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.

Entities:  

Keywords:  Growth hormone; Neurofibromatosis type 1; Turner syndrome

Year:  2017        PMID： 28706617      PMCID： PMC5494441          DOI： 10.4081/pr.2017.6810

Source DB:  PubMed          Journal:  Pediatr Rep        ISSN： 2036-749X


  20 in total

1.  Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.

Authors:  Carolyn A Bondy
Journal:  J Clin Endocrinol Metab       Date:  2006-10-17       Impact factor: 5.958

Review 2.  National Institutes of Health Consensus Development Conference Statement: neurofibromatosis. Bethesda, Md., USA, July 13-15, 1987.

Authors: 
Journal:  Neurofibromatosis       Date:  1988

Review 3.  Growth hormone and neurofibromatosis.

Authors:  S J Howell; P Wilton; A Lindberg; S M Shalet
Journal:  Horm Res       Date:  2000

Review 4.  The diagnostic and clinical significance of café-au-lait macules.

Authors:  Kara N Shah
Journal:  Pediatr Clin North Am       Date:  2010-10       Impact factor: 3.278

Review 5.  Endocrine implications of neurofibromatosis 1 in childhood.

Authors:  Carla Bizzarri; Giorgia Bottaro
Journal:  Horm Res Paediatr       Date:  2015-02-05       Impact factor: 2.852

6.  Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndrome.

Authors:  Nihal Hatipoglu; Selim Kurtoglu; Mustafa Kendirci; Mehmet Keskin; Hüseyin Per
Journal:  J Trop Pediatr       Date:  2009-07-03       Impact factor: 1.165

7.  Brain tumors in children with von Recklinghausen neurofibromatosis.

Authors:  H Hochstrasser; E Boltshauser; A Valavanis
Journal:  Neurofibromatosis       Date:  1988

Review 8.  Malignant peripheral nerve sheath tumors.

Authors:  Mohamad Farid; Elizabeth G Demicco; Roberto Garcia; Linda Ahn; Pamela R Merola; Angela Cioffi; Robert G Maki
Journal:  Oncologist       Date:  2014-01-27

9.  Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency.

Authors:  Sara Domingues; Lara Isidoro; Dalila Rocha; Jorge Sales Marques
Journal:  Case Rep Genet       Date:  2014-03-04

Review 10.  Neurofibromatosis type 1 revisited.

Authors:  Virginia C Williams; John Lucas; Michael A Babcock; David H Gutmann; Bruce Korf; Bernard L Maria
Journal:  Pediatrics       Date:  2009-01       Impact factor: 7.124
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  3 in total

1.  Rare Association between Two Genetic Conditions: Turner Syndrome and Neurofibromatosis Type 1.

Authors:  R El Qadiry; K Danaoui; H Nassih; A Bourrahouat; I Ait Sab
Journal:  Case Rep Endocrinol       Date:  2022-04-15

2.  Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.

Authors:  Kelly L Jones; Erin A McNamara; Mauro Longoni; Danny E Miller; Mersedeh Rohanizadegan; Laura A Newman; Frances Hayes; Lynne L Levitsky; Betty L Herrington; Angela E Lin
Journal:  Am J Med Genet A       Date:  2018-08-06       Impact factor: 2.802

3.  Turner syndrome and neurofibromatosis type 1: the unusual combination of two common genetic disorders.

Authors:  Inês Vieira; Sofia Lopes; Margarida Bastos; Luísa Ruas; Dírcea Rodrigues; Isabel Paiva
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2022-08-01
  3 in total

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