Neurofibromatosis type 1 physical examination: Difference between revisions
MoisesRomo (talk | contribs) No edit summary |
MoisesRomo (talk | contribs) No edit summary |
||
Line 24: | Line 24: | ||
===Appearance of the Patient=== | ===Appearance of the Patient=== | ||
* | *Delayed puberty features (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program">{{cite web |url=https://rarediseases.info.nih.gov/diseases/7866/neurofibromatosis-type-1 |title=Neurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program |format= |work= |accessdate=}}</ref><ref name="pmid17636453">{{cite journal |vauthors=Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G |title=Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors |journal=J Genet Couns |volume=16 |issue=4 |pages=387–407 |date=August 2007 |pmid=17636453 |pmc=6338721 |doi=10.1007/s10897-007-9101-8 |url=}}</ref> | ||
*Genu valgum | *Cognitive imapirment (present in 80 to 99% of the individuals)<ref>Hyman, SL. et al.(2005). The Nature and Frequency of Cognitive Deficits in Children with Neurofibromatosis Type 1. Neurology, 65, 1037-1044.</ref><ref>Hyman, S.L. et al. (2003). Natural History of Neuropsychological Ability and T2-Hyperintensities in Patients with Neurofibromatosis Type 1. Neurology, 60(7), 1139-1145.</ref><ref name="pmid17636453" /> | ||
*Speech impairment | *Ataxic (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*High stature | *Genu valgum (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Low stature | *Speech impairment (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Abnormal hair quantity | *High stature (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Precocious puberty | *Low stature (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Abnormal hair quantity (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | |||
*Precocious puberty features (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | |||
===Vital Signs=== | ===Vital Signs=== | ||
*High blood pressure with normal pulse pressure | *High blood pressure with normal pulse pressure (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
===Skin=== | ===Skin=== | ||
* Neurofibromas are the most common type of tumor in neurofibromatosis type 1 | *Neurofibromas are the most common type of tumor in neurofibromatosis type 1 (present in 80–99% of the individuals). Skin neurofibromas can be classified as pedunculated, subcutaneous, or sessile.<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid9128932">{{cite journal |vauthors=Friedman JM, Birch PH |title=Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients |journal=Am. J. Med. Genet. |volume=70 |issue=2 |pages=138–43 |date=May 1997 |pmid=9128932 |doi=10.1002/(sici)1096-8628(19970516)70:2<138::aid-ajmg7>3.0.co;2-u |url=}}</ref><ref name="pmid26564071">{{cite journal |vauthors=Anderson JL, Gutmann DH |title=Neurofibromatosis type 1 |journal=Handb Clin Neurol |volume=132 |issue= |pages=75–86 |date=2015 |pmid=26564071 |doi=10.1016/B978-0-444-62702-5.00004-4 |url=}}</ref><ref>{{cite journal|doi=10.1002/(SICI)1096-8628(19990326)89:1<23::AID-AJMG6>3.0.CO;2-%23}}</ref><ref name="pmid28230061">{{cite journal |vauthors=Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ |title=Neurofibromatosis type 1 |journal=Nat Rev Dis Primers |volume=3 |issue= |pages=17004 |date=February 2017 |pmid=28230061 |doi=10.1038/nrdp.2017.4 |url=}}</ref><ref name="pmid17636453" /> | ||
*Plexiform neurofibromas are potentialy malignant.They have been described as “a bag of worms” (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid18559970">{{cite journal |vauthors=Mautner VF, Asuagbor FA, Dombi E, Fünsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM |title=Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1 |journal=Neuro-oncology |volume=10 |issue=4 |pages=593–8 |date=August 2008 |pmid=18559970 |pmc=2666233 |doi=10.1215/15228517-2008-011 |url=}}</ref><ref name="pmid26564071" /><ref name="pmid28230061" /> | |||
*Generalized hyperpigmentation (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | |||
* Plexiform neurofibromas are potentialy malignant.They have been described as “a bag of worms” | |||
*Cafe au lait spots | *Cafe au lait spots (present in 80 to 99% of the individuals)<ref name="pmid28230061" /><ref name="pmid17636453" /> | ||
* | *Lipomas (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" /> | ||
*Macules | *Macules (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Melanocytic nevus | *Melanocytic nevus (present in 80 to 99% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
* | *Hypopigmented skin patches (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Bruises | *Hypertrophy of fungiform papillae (present in 5 to 29% of the individuals)<ref name="urlscielo.isciii.es">{{cite web |url=http://scielo.isciii.es/pdf/odonto/v21n5/original1.pdf |title=scielo.isciii.es |format= |work= |accessdate=}}</ref> | ||
* | *Bruises (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Skin freckling (present in 5 to 29% of the individuals)<ref name="pmid28230061" /> | |||
===HEENT=== | ===HEENT=== | ||
* | *Lisch nodules (present in 80 to 99% of the individuals)<ref name="pmid28230061" /><ref name="pmid17636453" /> | ||
*Hearing impairment (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" /> | |||
*Hearing impairment | *Heterochromia iridis (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Proptosis (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" /> | |||
* | *Hidrocephalus (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
* | *Macrocephaly (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
* | *Abnormal electroretinogram (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Abnormal electroretinogram | *Abnormal eyelid morphology (present in 5 to 29% of the individuals)<ref name="pmid28230061" /> | ||
*Abnormal eyelid morphology | *Abnormality of retinal pigmentation (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Abnormality of retinal pigmentation | *Cataract (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" /> | ||
*Cataract | *Chorioretinal coloboma (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" /> | ||
*Chorioretinal coloboma | *Corneal opacity (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Corneal opacity | *Glaucoma (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" /> | ||
*Glaucoma | *Myopia (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" /> | ||
*Myopia | *Hypertelorism (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Hypertelorism | *Optic nerve glioma (present in 1 to 4% of the individuals)<ref name="pmid28230061" /> | ||
===Neck=== | ===Neck=== | ||
*Parathyroid adenoma | *Parathyroid adenoma (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
===Chest=== | ===Chest=== | ||
* | *Respiratory system anomalies (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Pectus excavatum | *Pectus excavatum (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Breast cancer (present in 1 to 4% of the individuals)<ref name="pmid28230061" /> | |||
===Cardiovascular=== | ===Cardiovascular=== | ||
* Arterial stenosis | *Arterial stenosis (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
* Hypsarrhythmia | *Hypsarrhythmia (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
===Abdomen=== | ===Abdomen=== | ||
*Neoplasm of the gastrointestinal tract | *Neoplasm of the gastrointestinal tract (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Pheochromocytoma | *Pheochromocytoma (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
===Back=== | ===Back=== | ||
*Scoliosis | *Scoliosis (present in 5 to 29% of the individuals)<ref name="pmid28230061" /><ref name="pmid17636453" /> | ||
*Kyphosis | *Kyphosis (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Spina bifida | *Spina bifida (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> <ref name="pmid17636453" /> | ||
===Genitourinary=== | ===Genitourinary=== | ||
*Cryptorchidism | *Cryptorchidism (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" /> | ||
*Abnormality of the upper urinary tract | *Abnormality of the upper urinary tract (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Urinary tract neoplasm | *Urinary tract neoplasm (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Renal artery stenosis | *Renal artery stenosis (present in 1 to 4% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
===Neuromuscular=== | ===Neuromuscular=== | ||
*Paresthesia | *Paresthesia (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
===Extremities=== | ===Extremities=== | ||
*Genu | *Genu valgum (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | ||
*Slender long bones (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" /> | |||
*Skeletal dysplasia (present in 30 to 79% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /><ref name="pmid17636453" /><ref name="urlscielo.isciii.es" /> | |||
*Joint stiffness (present in 5 to 29% of the individuals)<ref name="urlNeurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" /> | |||
*Tibial pseudarthrosis (present in 1 to 4% of the individuals)<ref name="pmid28230061" /> | |||
= | |||
= | |||
* | |||
= | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} |
Revision as of 12:33, 1 September 2020
Neurofibromatosis type 1 Microchapters |
Differentiating Neurofibromatosis type 1 from other Diseases |
---|
Diagnosis |
Treatment |
Case Studies |
Neurofibromatosis type 1 physical examination On the Web |
American Roentgen Ray Society Images of Neurofibromatosis type 1 physical examination |
Risk calculators and risk factors for Neurofibromatosis type 1 physical examination |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.
Overview
Physical Examination
Physical examination of patients with [disease name] is usually normal.
OR
Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].
OR
The presence of [finding(s)] on physical examination is diagnostic of [disease name].
OR
The presence of [finding(s)] on physical examination is highly suggestive of [disease name].
Appearance of the Patient
- Delayed puberty features (present in 80 to 99% of the individuals)[1][2]
- Cognitive imapirment (present in 80 to 99% of the individuals)[3][4][2]
- Ataxic (present in 30 to 79% of the individuals)[1]
- Genu valgum (present in 30 to 79% of the individuals)[1]
- Speech impairment (present in 30 to 79% of the individuals)[1]
- High stature (present in 30 to 79% of the individuals)[1]
- Low stature (present in 5 to 29% of the individuals)[1]
- Abnormal hair quantity (present in 5 to 29% of the individuals)[1]
- Precocious puberty features (present in 5 to 29% of the individuals)[1]
Vital Signs
- High blood pressure with normal pulse pressure (present in 5 to 29% of the individuals)[1]
Skin
- Neurofibromas are the most common type of tumor in neurofibromatosis type 1 (present in 80–99% of the individuals). Skin neurofibromas can be classified as pedunculated, subcutaneous, or sessile.[1][5][6][7][8][2]
- Plexiform neurofibromas are potentialy malignant.They have been described as “a bag of worms” (present in 80 to 99% of the individuals)[1][9][6][8]
- Generalized hyperpigmentation (present in 80 to 99% of the individuals)[1]
- Cafe au lait spots (present in 80 to 99% of the individuals)[8][2]
- Lipomas (present in 80 to 99% of the individuals)[1][2]
- Macules (present in 80 to 99% of the individuals)[1]
- Melanocytic nevus (present in 80 to 99% of the individuals)[1]
- Hypopigmented skin patches (present in 5 to 29% of the individuals)[1]
- Hypertrophy of fungiform papillae (present in 5 to 29% of the individuals)[10]
- Bruises (present in 5 to 29% of the individuals)[1]
- Skin freckling (present in 5 to 29% of the individuals)[8]
HEENT
- Lisch nodules (present in 80 to 99% of the individuals)[8][2]
- Hearing impairment (present in 30 to 79% of the individuals)[1][2]
- Heterochromia iridis (present in 30 to 79% of the individuals)[1]
- Proptosis (present in 30 to 79% of the individuals)[1][2]
- Hidrocephalus (present in 5 to 29% of the individuals)[1]
- Macrocephaly (present in 5 to 29% of the individuals)[1]
- Abnormal electroretinogram (present in 5 to 29% of the individuals)[1]
- Abnormal eyelid morphology (present in 5 to 29% of the individuals)[8]
- Abnormality of retinal pigmentation (present in 5 to 29% of the individuals)[1]
- Cataract (present in 5 to 29% of the individuals)[1][2]
- Chorioretinal coloboma (present in 5 to 29% of the individuals)[1][2]
- Corneal opacity (present in 5 to 29% of the individuals)[1]
- Glaucoma (present in 5 to 29% of the individuals)[1][2]
- Myopia (present in 5 to 29% of the individuals)[1][2]
- Hypertelorism (present in 1 to 4% of the individuals)[1]
- Optic nerve glioma (present in 1 to 4% of the individuals)[8]
Neck
- Parathyroid adenoma (present in 1 to 4% of the individuals)[1]
Chest
- Respiratory system anomalies (present in 5 to 29% of the individuals)[1]
- Pectus excavatum (present in 1 to 4% of the individuals)[1]
- Breast cancer (present in 1 to 4% of the individuals)[8]
Cardiovascular
- Arterial stenosis (present in 5 to 29% of the individuals)[1]
- Hypsarrhythmia (present in 1 to 4% of the individuals)[1]
Abdomen
- Neoplasm of the gastrointestinal tract (present in 5 to 29% of the individuals)[1]
- Pheochromocytoma (present in 5 to 29% of the individuals)[1]
Back
- Scoliosis (present in 5 to 29% of the individuals)[8][2]
- Kyphosis (present in 5 to 29% of the individuals)[1]
- Spina bifida (present in 1 to 4% of the individuals)[1] [2]
Genitourinary
- Cryptorchidism (present in 30 to 79% of the individuals)[1][2]
- Abnormality of the upper urinary tract (present in 5 to 29% of the individuals)[1]
- Urinary tract neoplasm (present in 5 to 29% of the individuals)[1]
- Renal artery stenosis (present in 1 to 4% of the individuals)[1]
Neuromuscular
- Paresthesia (present in 30 to 79% of the individuals)[1]
Extremities
- Genu valgum (present in 30 to 79% of the individuals)[1]
- Slender long bones (present in 30 to 79% of the individuals)[1][2]
- Skeletal dysplasia (present in 30 to 79% of the individuals)[1][2][10]
- Joint stiffness (present in 5 to 29% of the individuals)[1]
- Tibial pseudarthrosis (present in 1 to 4% of the individuals)[8]
References
- ↑ 1.00 1.01 1.02 1.03 1.04 1.05 1.06 1.07 1.08 1.09 1.10 1.11 1.12 1.13 1.14 1.15 1.16 1.17 1.18 1.19 1.20 1.21 1.22 1.23 1.24 1.25 1.26 1.27 1.28 1.29 1.30 1.31 1.32 1.33 1.34 1.35 1.36 1.37 1.38 1.39 1.40 1.41 1.42 1.43 1.44 1.45 1.46 1.47 "Neurofibromatosis type 1 | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
- ↑ 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 2.11 2.12 2.13 2.14 2.15 2.16 Radtke HB, Sebold CD, Allison C, Haidle JL, Schneider G (August 2007). "Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors". J Genet Couns. 16 (4): 387–407. doi:10.1007/s10897-007-9101-8. PMC 6338721. PMID 17636453.
- ↑ Hyman, SL. et al.(2005). The Nature and Frequency of Cognitive Deficits in Children with Neurofibromatosis Type 1. Neurology, 65, 1037-1044.
- ↑ Hyman, S.L. et al. (2003). Natural History of Neuropsychological Ability and T2-Hyperintensities in Patients with Neurofibromatosis Type 1. Neurology, 60(7), 1139-1145.
- ↑ Friedman JM, Birch PH (May 1997). "Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients". Am. J. Med. Genet. 70 (2): 138–43. doi:10.1002/(sici)1096-8628(19970516)70:2<138::aid-ajmg7>3.0.co;2-u. PMID 9128932.
- ↑ 6.0 6.1 Anderson JL, Gutmann DH (2015). "Neurofibromatosis type 1". Handb Clin Neurol. 132: 75–86. doi:10.1016/B978-0-444-62702-5.00004-4. PMID 26564071.
- ↑ . doi:10.1002/(SICI)1096-8628(19990326)89:1<23::AID-AJMG6>3.0.CO;2-%23. Missing or empty
|title=
(help) - ↑ 8.0 8.1 8.2 8.3 8.4 8.5 8.6 8.7 8.8 8.9 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). "Neurofibromatosis type 1". Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
- ↑ Mautner VF, Asuagbor FA, Dombi E, Fünsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM (August 2008). "Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1". Neuro-oncology. 10 (4): 593–8. doi:10.1215/15228517-2008-011. PMC 2666233. PMID 18559970.
- ↑ 10.0 10.1 "scielo.isciii.es" (PDF).