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Cardiology552 papers

Neurofibromatosis

Last edited: 4/23/2026

Overview

Neurofibromatosis (NF) encompasses two primary types: NF1 (von Recklinghausen syndrome) and NF2. NF1 is characterized by cutaneous and subcutaneous neurofibromas, café-au-lait spots, and increased risk of various malignancies and vascular complications. NF2 involves schwannomas and meningiomas, often leading to neurological deficits 1 6 44.

Diagnosis

Clinical Criteria: Multiple café-au-lait spots (≥6 >3 mm in children), axillary or inguinal freckling, multiple neurofibromas, optic glioma, characteristic bone lesions, or a first-degree relative with NF1 1 7 10.

Genetic Testing: Mutation analysis of the NF1 gene confirms diagnosis 1 3 45.

Imaging: MRI and CT scans to assess for internal tumors, vascular malformations, and bone abnormalities 4 11 17 22 33 53.

Vascular Assessment: Transcranial Doppler for detecting cerebrovascular abnormalities in children 17.

Management

Symptomatic Treatment: Pain management, surgical intervention for complications like vascular malformations, and plexiform neurofibroma resection 5 14 24 35 55.

Endovascular Procedures: For vascular complications such as aneurysms and fistulas, endovascular stenting and embolization are utilized 8 22 33 49 51.

Monitoring: Regular follow-up for early detection of complications including malignancies, cardiovascular issues, and neurological deficits 6 15 30 50.

Supportive Care: Psychological support and multidisciplinary care teams addressing diverse symptoms 5 35.

Special Populations

Pregnancy: Increased risk of vascular complications; careful monitoring required 10 39.

Pediatrics: Early detection and management of complications like cerebrovascular issues through imaging 17 64.

Comorbidities: Attention to cardiovascular risks, including aneurysms and arterial fragility 29 56 66.

Key Recommendations

Genetic Testing for Confirmation: Utilize genetic testing for NF1 gene mutations to confirm diagnosis (Evidence: Strong 1 3 45).

Regular Monitoring for Vascular Complications: Implement regular imaging and Doppler studies to monitor for vascular abnormalities, especially in pediatric patients (Evidence: Moderate 17 53).

Multidisciplinary Approach: Employ a multidisciplinary team for comprehensive management addressing dermatological, neurological, and cardiovascular aspects (Evidence: Expert opinion 35).

Endovascular Interventions for Vascular Issues: Consider endovascular techniques for managing vascular malformations and aneurysms (Evidence: Moderate 8 22 49).

Pain Management Strategies: Incorporate advanced pain management techniques, including subarachnoid drug infusion for severe pain (Evidence: Weak 15).

References

Showing 100 most recent of 200 indexed papers.

1 Adeghate J, Tsang S, Sharma T. Neurofibromatosis. Advances in experimental medicine and biology 2025. link 2 Lee TJ, Chopra M, Kim RH, Parkin PC, Barnett-Tapia C. Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis. Orphanet journal of rare diseases 2023. link 3 Qin S, Zhang Y, Yu F, Ni Y, Zhong J. A Novel Heterozygous . Journal of clinical research in pediatric endocrinology 2023. link 4 Mayer HF, Palacios Huatuco RM, Petersen ML, Garcia Rodriguez B, Peralta OA. Modified facelift in severe plexiform neurofibromatosis associated with venous vascular malformation: Case report. Annales de chirurgie plastique et esthetique 2023. link 5 Grau LE, Larkin K, Lalloo C, Stinson JN, Zempsky WT, Ball SA et al.. Perspectives on adapting a mobile application for pain self-management in neurofibromatosis type 1: results of online focus group discussions with individuals living with neurofibromatosis type 1 and pain management experts. BMJ open 2022. link 6 Phillips TG, Persia OR, Jimenez Lopez JA. Neurofibromatosis type 1: More than skin deep. The Journal of family practice 2020. link 7 Lalor L, Davies OMT, Basel D, Siegel DH. Café au lait spots: When and how to pursue their genetic origins. Clinics in dermatology 2020. link 8 Raborn J, McCafferty BJ, Gunn AJ, Moawad S, Mahmoud K, Aal AKA et al.. Endovascular Management of Neurofibromatosis Type I-Associated Vasculopathy: A Case Series and Brief Review of the Literature. Vascular and endovascular surgery 2020. link 9 Işık E, Onay H, Atik T, Solmaz AE, Özen S, Çoğulu Ö et al.. A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia. Journal of clinical research in pediatric endocrinology 2020. link 10 Tateishi A, Okada M, Nakai M, Yokota Y, Miyamoto Y. Spontaneous ascending aortic rupture in a pregnant woman with neurofibromatosis type 1. General thoracic and cardiovascular surgery 2019. link 11 Su XJ, Li Q, Shen HX. Arteriovenous Fistula Inside Cervical Spinal Canal Associated with Neurofibromatosis Type 1. World neurosurgery 2019. link 12 Blakeley JO, Wolkenstein P, Widemann BC, Lee J, Le LQ, Jackson R et al.. Creating a comprehensive research strategy for cutaneous neurofibromas. Neurology 2018. link 13 Bargiela D, Verkerk MM, Wee I, Welman K, Ng E, Choong AMTL. The endovascular management of neurofibromatosis-associated aneurysms: A systematic review. European journal of radiology 2018. link 14 Narayanamurthy H, El-Badawy S, Mukonoweshuro W, Whitfield P. A case of spontaneous haematoma from vertebral artery arterio-venous fistula in a patient with neurofibromatosis type 1. British journal of neurosurgery 2017. link 15 Higuchi T, Shimada K, Cho Y, Minami K, Takeuchi K, Sakamoto A. Effectiveness of subarachnoid drug infusion for pediatric tumor-related pain. Pediatrics international : official journal of the Japan Pediatric Society 2016. link 16 Vurallı D, Gönç N, Vidaud D, Özön A, Alikaşifoğlu A, Kandemir N. Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. Journal of clinical research in pediatric endocrinology 2016. link 17 Paschoal JK, Paschoal FM, de Lima FT, Pinho RS, Vilanova LC, Bor-Seng-Shu E et al.. Detection of Cerebral Vasculopathy by Transcranial Doppler in Children With Neurofibromatosis Type 1. Journal of child neurology 2016. link 18 Puvanesarajah V, Lina IA, Liauw JA, Coon AL, Witham TF. Intercostal aneurysm causing spinal cord compression in an NF1 patient. European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society 2015. link 19 Mydin MI, Sharma A, Zia Z, Hawari M, Jadoon M, Majewski A. A novel approach in managing right-sided haemothorax in neurofibromatosis type 1. Asian cardiovascular & thoracic annals 2015. link 20 Giannantoni NM, Broccolini A, Frisullo G, Pilato F, Profice P, Morosetti R et al.. Neurofibromatosis type 1 associated with vertebrobasilar dolichoectasia and pontine ischemic stroke. Journal of neuroimaging : official journal of the American Society of Neuroimaging 2015. link 21 Ekvall S, Sjörs K, Jonzon A, Vihinen M, Annerén G, Bondeson ML. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. American journal of medical genetics. Part A 2014. link 22 Hamasaki O, Ikawa F, Hidaka T, Kurokawa Y, Yonezawa U. Extracranial internal carotid artery pseudoaneurysm associated with neurofibromatosis type 1 treated with endovascular stenting and coil embolization. Vascular and endovascular surgery 2014. link 23 Golomb MR, Smith JL. Poor wound healing after pial synangiosis in 2 children with moyamoya vasculopathy associated with neurofibromatosis type 1. Journal of child neurology 2014. link 24 Nishida Y, Tsukushi S, Urakawa H, Arai E, Kozawa E, Ishiguro N. Lower leg compartment syndrome in neurofibromatosis 1 patient with plexiform neurofibrom: a case report of aneurysm rupture. Annals of vascular surgery 2014. link 25 Nguyen R, Mir TS, Kluwe L, Jett K, Kentsch M, Mueller G et al.. Cardiac characterization of 16 patients with large NF1 gene deletions. Clinical genetics 2013. link 26 Rodriguez FJ, Stratakis CA, Evans DG. Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes. Acta neuropathologica 2012. link 27 Kim HJ, Seon HJ, Choi S, Jang NK. Ruptured aneurysm of intercostal arteriovenous malformation associated with neurofibromatosis type 1: a case report. Cardiovascular and interventional radiology 2011. link 28 Zinnamosca L, Petramala L, Cotesta D, Marinelli C, Schina M, Cianci R et al.. Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects. Archives of dermatological research 2011. link 29 Smith M, Heran MK, Connolly MB, Heran HK, Friedman JM, Jett K et al.. Cerebrovasculopathy in NF1 associated with ocular and scalp defects. American journal of medical genetics. Part A 2011. link 30 Shah KN. The diagnostic and clinical significance of café-au-lait macules. Pediatric clinics of North America 2010. link 31 Aizawa K, Iwashita C, Saito T, Misawa Y. Spontaneous rupture of an intercostal artery in a patient with neurofibromatosis type 1. Interactive cardiovascular and thoracic surgery 2010. link 32 Falcone JL, Go MR, Baril DT, Oakley GJ, Makaroun MS, Chaer RA. Vascular wall invasion in neurofibromatosis-induced aortic rupture. Vascular and endovascular surgery 2010. link 33 Mendonça CT, Weingartner J, de Carvalho CA, Costa DS. Endovascular treatment of contained rupture of a superior mesenteric artery aneurysm resulting from neurofibromatosis type I. Journal of vascular surgery 2010. link 34 Hatipoglu N, Kurtoglu S, Kendirci M, Keskin M, Per H. Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndrome. Journal of tropical pediatrics 2010. link 35 Faruque MO, Davidson F. Clinical challenges and serious vascular complications in neurofibromatosis. Emergency medicine Australasia : EMA 2009. link 36 Lessard L, Izadpanah A, Williams HB. Giant thoracic neurofibromatosis type 1 with massive intratumoral haemorrhage: a case report. Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2009. link 37 Ng J, Mordekar SR, Connolly DJ, Baxter P. Stroke in a child with neurofibromatosis type 2. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2009. link 38 Padmanabhan A, Lee JS, Ismat FA, Lu MM, Lawson ND, Kanki JP et al.. Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis gene NFI. Proceedings of the National Academy of Sciences of the United States of America 2009. link 39 Hinsch N, Kriener S, Ritter RG, Holzer K. Fatal haemorrhage due to extensive fragility of medium- and large-sized arteries and veins in a young patient with neurofibromatosis 1. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology 2008. link 40 Pascual-Castroviejo I, Pascual-Pascual SI, Viaño J. Segmental neurofibromatosis type 1 (NF1) associated with Cobb syndrome: case report. Neuropediatrics 2008. link 41 Koz C, Yokusoglu M, Baysan O, Uzun M. Giant Chiari network mimics intracardiac tumor in a case of neurofibromatosis. International journal of cardiology 2008. link 42 Xu J, Ismat FA, Wang T, Yang J, Epstein JA. NF1 regulates a Ras-dependent vascular smooth muscle proliferative injury response. Circulation 2007. link 43 Petrak B, Bendova S, Seeman T, Klein T, Lisy J, Zatrapa T et al.. Mid-aortic syndrome with renovascular hypertension and multisystem involvement in a girl with familiar neurofibromatosis von Recklinghausen type 1. Neuro endocrinology letters 2007. link 44 Williams DS. Neurofibromatosis. Journal of insurance medicine (New York, N.Y.) 2006. link 45 Hüffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A. A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. American journal of medical genetics. Part A 2006. link 46 Cho YP, Kang GH, Choi SJ, Herr H, Han MS, Jang HJ et al.. Aneurysm of the popliteal artery in neurofibromatosis. Annals of vascular surgery 2005. link 47 De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E et al.. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. American journal of human genetics 2005. link 48 O'Keefe P, Reid J, Morrison S, Vidimos A, DiFiore J. Unexpected diagnosis of superficial neurofibroma in a lesion with imaging features of a vascular malformation. Pediatric radiology 2005. link 49 Kim SJ, Kim CW, Kim S, Lee TH, Kim KI, Moon TY et al.. Endovascular treatment of a ruptured internal thoracic artery pseudoaneurysm presenting as a massive hemothorax in a patient with type I neurofibromatosis. Cardiovascular and interventional radiology 2005. link 50 Slisatkorn W, Subtaweesin T, Laksanabunsong P, Warnnissorn M. Spontaneous rupture of the left subclavian artery in neurofibromatosis. Asian cardiovascular & thoracic annals 2003. link 51 Siddhartha W, Chavhan GB, Shrivastava M, Limaye US. Endovascular treatment for bilateral vertebral arteriovenous fistulas in neurofibromatosis 1. Australasian radiology 2003. link 52 Maheshwari S, Kale HA, Desai SB, Kohli A. Magnetic resonance imaging findings in an unusual case of atlanto axial dislocation and vertebral artery-vein fistulas in a patient of neurofibromatosis-1. Australasian radiology 2002. link 53 Hines GL, Lefkowitz L, Mohtashemi M. Infrarenal aortic rupture secondary to neurofibromatosis. Annals of vascular surgery 2002. link 54 Thomas J. Adjunctive tumescent technique in massive resections. Aesthetic plastic surgery 2001. link 55 Mitsui Y, Nakasaka Y, Akamatsu M, Ueda H, Kihara M, Takahashi M. Neurofibromatosis type 1 with basilar artery fusiform aneurysm manifesting Wallenberg's syndrome. Internal medicine (Tokyo, Japan) 2001. link 56 Conway JE, Hutchins GM, Tamargo RJ. Lack of evidence for an association between neurofibromatosis type I and intracranial aneurysms: autopsy study and review of the literature. Stroke 2001. link 57 Esler MD, Durbridge J, Kirby S. Epidural haematoma after dural puncture in a parturient with neurofibromatosis. British journal of anaesthesia 2001. link 58 Dereköy S, Sefali M. Plexiform neurofibroma of the submandibular gland. The Journal of laryngology and otology 2000. link 59 Littlejohn JO, Belman AB, Selby D. Plexiform neurofibroma of the penis in a child. Urology 2000. link00730-5) 60 Wolkenstein P, Durand-Zaleski I, Moreno JC, Zeller J, Hemery F, Revuz J. Cost evaluation of the medical management of neurofibromatosis 1: a prospective study on 201 patients. The British journal of dermatology 2000. link 61 Tins B, Greaves M, Bowling T. Neurofibromatosis associated with a coronary artery aneurysm. The British journal of radiology 2000. link 62 Smith BL, Munschauer CE, Diamond N, Rivera F. Ruptured internal carotid aneurysm resulting from neurofibromatosis: treatment with intraluminal stent graft. Journal of vascular surgery 2000. link 63 Tedesco MA, Ratti G, Di Salvo G, Martiniello AR, Limongelli G, Grieco M et al.. Noninvasive evaluation of arterial abnormalities in young patients with neurofibromatosis type 1. Angiology 2000. link 64 Serdaroğlu A, Simşek F, Gücüyener K, Oğuz A, Karadeniz C, Balibey M. Moyamoya syndrome after radiation therapy for optic pathway glioma: case report. Journal of child neurology 2000. link 65 Lin AE, Birch PH, Korf BR, Tenconi R, Niimura M, Poyhonen M et al.. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1. American journal of medical genetics 2000. link95:2<108::aid-ajmg4>3.0.co;2-0) 66 Biagi P, Alessandri M, Campanella G, Castro R, Totteri A, Fanciullacci M. A case of neurofibromatosis type 1 with an aldosterone-producing adenoma of the adrenal. Journal of internal medicine 1999. link 67 Ilgit ET, Vural M, Oguz A, Ozdogan ME. Peripheral arterial involvement in neurofibromatosis type 1--a case report. Angiology 1999. link 68 Jacob S, Prabhakar BR, Singh SK, Mammen KJ. Neurofibromatosis of the colon: an unusual manifestation of von Recklinghausen's diseases--a case report. Indian journal of pathology & microbiology 1998. link 69 Tidwell C, Copas P. Brachial artery rupture complicating a pregnancy with neurofibromatosis: a case report. American journal of obstetrics and gynecology 1998. link70096-1) 70 Zhao JZ, Han XD. Cerebral aneurysm associated with von Recklinghausen's neurofibromatosis: a case report. Surgical neurology 1998. link00376-5) 71 Singh S, Riaz M, Wilmshurst AD, Small JO. Radial artery aneurysm in a case of neurofibromatosis. British journal of plastic surgery 1998. link 72 Teitelbaum GP, Hurvitz RJ, Esrig BC. Hemothorax in type I neurofibromatosis. The Annals of thoracic surgery 1998. link00513-x) 73 Pittet B, Gumener R, Montandon D. Gigantic neurofibromatosis of the orbit. The Journal of craniofacial surgery 1997. link 74 Friedman JM, Birch PH. Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. American journal of medical genetics 1997. link1096-8628(19970516)70:2<138::aid-ajmg7>3.0.co;2-u) 75 Yilmaz M, Ada E, Vayvada H, Barutçu A. Management of a large arteriovenous fistula in the face: a case of neurofibromatosis type 1. Annals of plastic surgery 1997. link 76 Fuchi T, Ishimoto N, Kajinami T, Kajinami M, Ohmichi N, Kinoshita M. A 23-year-old patient with neurofibromatosis associated with acute myocardial infarction, vasospasm and a coronary artery ectasis. Internal medicine (Tokyo, Japan) 1997. link 77 Piqué E, Olivares M, Fariña MC, Martin L, Sarasa JL, Campos JM et al.. Pseudoatrophic macules: a variant of neurofibroma. Cutis 1996. link 78 Malmcrona R, Zöller M, Rembeck B. Heart rhythm in patients with neurofibromatosis type 1. Cardiology 1996. link 79 Otani Y, Morishita Y, Yoshida I, Ishikawa S, Otaki A, Aihara T et al.. A malignant Triton tumor in the anterior mediastinum requiring emergency surgery: report of a case. Surgery today 1996. link 80 Buehning L, Curry CJ. Neurofibromatosis-Noonan syndrome. Pediatric dermatology 1995. link 81 Kley N, Whaley J, Seizinger BR. Neurofibromatosis type 2 and von Hippel-Lindau disease: from gene cloning to function. Glia 1995. link 82 Nassiri M, Ghazi C, Stivers JR, Nadji M. Ganglioneuroma of the prostate. A novel finding in neurofibromatosis. Archives of pathology & laboratory medicine 1994. link 83 Wallace MR. Elephant man's disease. Science (New York, N.Y.) 1994. link 84 Kokubo T, Hiki Y, Horii A, Kobayashi Y. A case of Recklinghausen neurofibromatosis associated with membranous nephropathy. Nihon Jinzo Gakkai shi 1994. link 85 Jacks T, Shih TS, Schmitt EM, Bronson RT, Bernards A, Weinberg RA. Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nature genetics 1994. link 86 Kotzot D, Stöss H, Wagner H, Ulmer R. Jaffe-Campanacci syndrome: case report and review of literature. Clinical dysmorphology 1994. link 87 Issa MM, Yagol R, Tsang D. Intrascrotal neurofibromas. Urology 1993. link90594-z) 88 Gayton JL, Ledford JK, Tsai E. Intraoperative discovery of a neurofibroma during routine ptosis surgery. Ophthalmic plastic and reconstructive surgery 1993. link 89 Meschede D, Froster UG, Gullotta F, Nieschlag E. Reproductive failure in a patient with neurofibromatosis-Noonan syndrome. American journal of medical genetics 1993. link 90 Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R et al.. Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. American journal of human genetics 1993. link 91 Smith JL, Bowen BC. Ocular pulsation in neurofibromatosis. A clinical/neuroradiologic correlation. Journal of clinical neuro-ophthalmology 1993. link 92 Terada T, Nakamura Y, Hayashi S, Yokote H, Nakai K, Itakura T et al.. Complex occipital arteriovenous fistula associated with neurofibromatosis treated by embolization and surgery. Case report. 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Original source

[1]
Neurofibromatosis. — Adeghate J, Tsang S, Sharma T Advances in experimental medicine and biology (2025)
[2]
Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis. — Lee TJ, Chopra M, Kim RH, Parkin PC, Barnett-Tapia C Orphanet journal of rare diseases (2023)
[3]
A Novel Heterozygous — Qin S, Zhang Y, Yu F, Ni Y, Zhong J Journal of clinical research in pediatric endocrinology (2023)
[4]
Modified facelift in severe plexiform neurofibromatosis associated with venous vascular malformation: Case report. — Mayer HF, Palacios Huatuco RM, Petersen ML, Garcia Rodriguez B, Peralta OA Annales de chirurgie plastique et esthetique (2023)
[5]
Perspectives on adapting a mobile application for pain self-management in neurofibromatosis type 1: results of online focus group discussions with individuals living with neurofibromatosis type 1 and pain management experts. — Grau LE, Larkin K, Lalloo C, Stinson JN, Zempsky WT, Ball SA et al. BMJ open (2022)
[6]
Neurofibromatosis type 1: More than skin deep. — Phillips TG, Persia OR, Jimenez Lopez JA The Journal of family practice (2020)
[7]
Café au lait spots: When and how to pursue their genetic origins. — Lalor L, Davies OMT, Basel D, Siegel DH Clinics in dermatology (2020)
[8]
Endovascular Management of Neurofibromatosis Type I-Associated Vasculopathy: A Case Series and Brief Review of the Literature. — Raborn J, McCafferty BJ, Gunn AJ, Moawad S, Mahmoud K, Aal AKA et al. Vascular and endovascular surgery (2020)
[9]
A Neurofibromatosis Noonan Syndrome Patient Presenting with Abnormal External Genitalia. — Işık E, Onay H, Atik T, Solmaz AE, Özen S, Çoğulu Ö et al. Journal of clinical research in pediatric endocrinology (2020)
[10]
Spontaneous ascending aortic rupture in a pregnant woman with neurofibromatosis type 1. — Tateishi A, Okada M, Nakai M, Yokota Y, Miyamoto Y General thoracic and cardiovascular surgery (2019)
[11]
Arteriovenous Fistula Inside Cervical Spinal Canal Associated with Neurofibromatosis Type 1. — Su XJ, Li Q, Shen HX World neurosurgery (2019)
[12]
Creating a comprehensive research strategy for cutaneous neurofibromas. — Blakeley JO, Wolkenstein P, Widemann BC, Lee J, Le LQ, Jackson R et al. Neurology (2018)
[13]
The endovascular management of neurofibromatosis-associated aneurysms: A systematic review. — Bargiela D, Verkerk MM, Wee I, Welman K, Ng E, Choong AMTL European journal of radiology (2018)
[14]
A case of spontaneous haematoma from vertebral artery arterio-venous fistula in a patient with neurofibromatosis type 1. — Narayanamurthy H, El-Badawy S, Mukonoweshuro W, Whitfield P British journal of neurosurgery (2017)
[15]
Effectiveness of subarachnoid drug infusion for pediatric tumor-related pain. — Higuchi T, Shimada K, Cho Y, Minami K, Takeuchi K, Sakamoto A Pediatrics international : official journal of the Japan Pediatric Society (2016)
[16]
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome. — Vurallı D, Gönç N, Vidaud D, Özön A, Alikaşifoğlu A, Kandemir N Journal of clinical research in pediatric endocrinology (2016)
[17]
Detection of Cerebral Vasculopathy by Transcranial Doppler in Children With Neurofibromatosis Type 1. — Paschoal JK, Paschoal FM, de Lima FT, Pinho RS, Vilanova LC, Bor-Seng-Shu E et al. Journal of child neurology (2016)
[18]
Intercostal aneurysm causing spinal cord compression in an NF1 patient. — Puvanesarajah V, Lina IA, Liauw JA, Coon AL, Witham TF European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society (2015)
[19]
A novel approach in managing right-sided haemothorax in neurofibromatosis type 1. — Mydin MI, Sharma A, Zia Z, Hawari M, Jadoon M, Majewski A Asian cardiovascular & thoracic annals (2015)
[20]
Neurofibromatosis type 1 associated with vertebrobasilar dolichoectasia and pontine ischemic stroke. — Giannantoni NM, Broccolini A, Frisullo G, Pilato F, Profice P, Morosetti R et al. Journal of neuroimaging : official journal of the American Society of Neuroimaging (2015)
[21]
Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome. — Ekvall S, Sjörs K, Jonzon A, Vihinen M, Annerén G, Bondeson ML American journal of medical genetics. Part A (2014)
[22]
Extracranial internal carotid artery pseudoaneurysm associated with neurofibromatosis type 1 treated with endovascular stenting and coil embolization. — Hamasaki O, Ikawa F, Hidaka T, Kurokawa Y, Yonezawa U Vascular and endovascular surgery (2014)
[23]
Poor wound healing after pial synangiosis in 2 children with moyamoya vasculopathy associated with neurofibromatosis type 1. — Golomb MR, Smith JL Journal of child neurology (2014)
[24]
Lower leg compartment syndrome in neurofibromatosis 1 patient with plexiform neurofibrom: a case report of aneurysm rupture. — Nishida Y, Tsukushi S, Urakawa H, Arai E, Kozawa E, Ishiguro N Annals of vascular surgery (2014)
[25]
Cardiac characterization of 16 patients with large NF1 gene deletions. — Nguyen R, Mir TS, Kluwe L, Jett K, Kentsch M, Mueller G et al. Clinical genetics (2013)
[26]
Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes. — Rodriguez FJ, Stratakis CA, Evans DG Acta neuropathologica (2012)
[27]
Ruptured aneurysm of intercostal arteriovenous malformation associated with neurofibromatosis type 1: a case report. — Kim HJ, Seon HJ, Choi S, Jang NK Cardiovascular and interventional radiology (2011)
[28]
Neurofibromatosis type 1 (NF1) and pheochromocytoma: prevalence, clinical and cardiovascular aspects. — Zinnamosca L, Petramala L, Cotesta D, Marinelli C, Schina M, Cianci R et al. Archives of dermatological research (2011)
[29]
Cerebrovasculopathy in NF1 associated with ocular and scalp defects. — Smith M, Heran MK, Connolly MB, Heran HK, Friedman JM, Jett K et al. American journal of medical genetics. Part A (2011)
[30]
The diagnostic and clinical significance of café-au-lait macules. — Shah KN Pediatric clinics of North America (2010)
[31]
Spontaneous rupture of an intercostal artery in a patient with neurofibromatosis type 1. — Aizawa K, Iwashita C, Saito T, Misawa Y Interactive cardiovascular and thoracic surgery (2010)
[32]
Vascular wall invasion in neurofibromatosis-induced aortic rupture. — Falcone JL, Go MR, Baril DT, Oakley GJ, Makaroun MS, Chaer RA Vascular and endovascular surgery (2010)
[33]
Endovascular treatment of contained rupture of a superior mesenteric artery aneurysm resulting from neurofibromatosis type I. — Mendonça CT, Weingartner J, de Carvalho CA, Costa DS Journal of vascular surgery (2010)
[34]
Neurofibromatosis type 1 with overlap Turner syndrome and Klinefelter syndrome. — Hatipoglu N, Kurtoglu S, Kendirci M, Keskin M, Per H Journal of tropical pediatrics (2010)
[35]
Clinical challenges and serious vascular complications in neurofibromatosis. — Faruque MO, Davidson F Emergency medicine Australasia : EMA (2009)
[36]
Giant thoracic neurofibromatosis type 1 with massive intratumoral haemorrhage: a case report. — Lessard L, Izadpanah A, Williams HB Journal of plastic, reconstructive & aesthetic surgery : JPRAS (2009)
[37]
Stroke in a child with neurofibromatosis type 2. — Ng J, Mordekar SR, Connolly DJ, Baxter P European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society (2009)
[38]
Cardiac and vascular functions of the zebrafish orthologues of the type I neurofibromatosis gene NFI. — Padmanabhan A, Lee JS, Ismat FA, Lu MM, Lawson ND, Kanki JP et al. Proceedings of the National Academy of Sciences of the United States of America (2009)
[39]
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