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PubMed This is a summary of 58 peer-reviewed journal articles Updated

Research & Literature

Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.

Explore the Literature Visualize citation networks across 58 referenced papers

Top Authors

Dawn H. Siegel
Palo Alto University
Beth A. Drolet
University of Wisconsin–Madison
Ilona J. Frieden
University of California, San Francisco
Maria C. Garzón
Columbia University
Julie Powell
Université de Montréal
Anthony J. Mancini
Northwestern University
Catherine McCuaïg
Hospital for Sick Children
Sarah L. Chamlin
Northwestern University
Erin F. Mathes
University of California, San Francisco
Christopher P. Hess
University of California, San Francisco

Top Institutions

Ranked by publications Top 10 institutions
02

Palo Alto University

Palo Alto, United States

15 papers
03

University of Wisconsin–Madison

Madison, United States

17 papers
06
09

Université de Montréal

Montreal, Canada

12 papers
Contributors Julie Powell
10

Hospital Sant Joan de Déu Barcelona

Barcelona, Spain

15 papers

References

References (58)
  1. 1

    Propranolol and prednisolone combination for the treatment of segmental haemangioma in PHACES syndrome.

    Gnarra M, Solman L, Harper J, Batul Syed S

    The British journal of dermatology 2015; (173(1)):242-6 doi:10.1111/bjd.13588.

    PMID: 25639889
  2. 2

    PHACE(S) Syndrome With Absent Intracranial Internal Carotid Artery and Anomalous Circle of Willis.

    Winter PR, Itinteang T, Leadbitter P, et al.

    The Journal of craniofacial surgery 2015; (26(4)):e315-7 doi:10.1097/SCS.0000000000001701.

    PMID: 26080245
  3. 3

    Prevalence and Clinical Characteristics of Headaches in PHACE Syndrome.

    Yu J, Siegel DH, Drolet BA, et al.

    Journal of child neurology 2016; (31(4)):468-73 doi:10.1177/0883073815599261.

    PMID: 26271792
  4. 4

    Orbital Hemangioma with Intracranial Vascular Anomalies and Hemangiomas: A New Presentation of PHACE Syndrome?

    Antonov NK, Spence-Shishido A, Marathe KS, et al.

    Pediatric dermatology 2015; (32(6)):e267-72 doi:10.1111/pde.12695.

    PMID: 26446288
  5. 5

    PHACE(S) syndrome.

    Heyer GL

    Handbook of clinical neurology 2015; (132()):169-83.

    PMID: 26564079
  6. 6

    PHACE syndrome and congenitally absent thyroid gland at MR imaging.

    Mamlouk MD, Yu JP, Asch S, Mathes EF

    Clinical imaging 2016; (40(2)):237-40.

    PMID: 26995578
  7. 7

    PHACE syndrome is associated with intracranial cavernous malformations.

    Foster KA, Ares WJ, Tempel ZJ, et al.

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2016; (32(8)):1463-9 doi:10.1007/s00381-016-3097-z.

    PMID: 27125518
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    Aortic arch repair in children with PHACE syndrome.

    Caragher SP, Scott JP, Siegel DH, et al.

    The Journal of thoracic and cardiovascular surgery 2016; (152(3)):709-17.

    PMID: 27160940
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    Neurodevelopmental Outcomes in Children with PHACE Syndrome.

    Brosig CL, Siegel DH, Haggstrom AN, et al.

    Pediatric dermatology 2016; (33(4)):415-23 doi:10.1111/pde.12870.

    PMID: 27291925
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    Safety of Oral Propranolol for the Treatment of Infantile Hemangioma: A Systematic Review.

    Léaute-Labrèze C, Boccara O, Degrugillier-Chopinet C, et al.

    Pediatrics 2016; (138(4)).

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    Multiple Pathological Ocular Findings in a Patient With PHACE Syndrome.

    Biler ED, Uretmen O

    Journal of pediatric ophthalmology and strabismus 2016; (53()):e72-e74 doi:10.3928/01913913-20161102-03.

    PMID: 27977032
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    Aortic arch tortuosity with PHACE syndrome - a rare case scenario.

    Sharma B, Reddy AK, Ganigara M, et al.

    Images in paediatric cardiology 2016; (18(2)):1-4.

    PMID: 28405204
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    Asymmetric Meckel Cave Enlargement: A Potential Marker of PHACES Syndrome.

    Wright JN, Wycoco V

    AJNR. American journal of neuroradiology 2017; (38(6)):1223-1227 doi:10.3174/ajnr.A5140.

    PMID: 28408631
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    Use of propranolol in a remote region of rural Guatemala to treat a large facial infantile haemangioma.

    Goldberg V, Martinez B, Cnop K, Rohloff P

    BMJ case reports 2017; (2017()) doi:10.1136/bcr-2017-219782.

    PMID: 28512124
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    PHACE(S) syndrome: Report of a case with new ocular and systemic manifestations.

    Assari R, Ziaee V, Moghimi S, et al.

    Journal of current ophthalmology 2017; (29(2)):136-138 doi:10.1016/j.joco.2016.10.005.

    PMID: 28626825
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    Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature.

    Tortora D, Severino M, Accogli A, et al.

    World neurosurgery 2017; (108()):291-302 doi:10.1016/j.wneu.2017.08.176.

    PMID: 28887276
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    Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.

    Steiner JE, McCoy GN, Hess CP, et al.

    American journal of medical genetics. Part A 2018; (176(1)):48-55 doi:10.1002/ajmg.a.38523.

    PMID: 29171184
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    Hearing loss in PHACE syndrome: clinical and radiologic findings.

    Mamlouk MD, Zimmerman B, Mathes EF, Rosbe KW

    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2018; (34(9)):1717-1724 doi:10.1007/s00381-018-3822-x.

    PMID: 29748705
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    Oral propranolol in the treatment of proliferating infantile haemangiomas: British Society for Paediatric Dermatology consensus guidelines.

    Solman L, Glover M, Beattie PE, et al.

    The British journal of dermatology 2018; (179(3)):582-589 doi:10.1111/bjd.16779.

    PMID: 29774538
  20. 20

    Infantile hemangioma with minimal or arrested growth as the skin manifestation of PHACE syndrome.

    Valdivielso-Ramos M, Torrelo A, Martin-Santiago A, et al.

    Pediatric dermatology 2018; (35(5)):622-627 doi:10.1111/pde.13597.

    PMID: 29984853
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    Ocular Complications in PHACE Syndrome: A True Association or a Coincidence?

    Samuelov L, Kinori M, Mancini AJ, et al.

    The Journal of pediatrics 2019; (204()):214-218.e2 doi:10.1016/j.jpeds.2018.08.031.

    PMID: 30270159
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    PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause.

    Siegel DH

    American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(4)):407-413 doi:10.1002/ajmg.c.31659.

    PMID: 30580483
  23. 23

    Moyamoya syndrome and PHACE syndrome: clinical and radiographic characterization of the intracranial arteriopathy and response to surgical revascularization.

    Jernigan S, Storey A, Hammer C, et al.

    Journal of neurosurgery. Pediatrics 2019; (23(4)):493-497 doi:10.3171/2018.10.PEDS18582.

    PMID: 30717056
  24. 24

    Persistent stapedial artery in PHACE syndrome.

    Quatre R, Manipoud P, Schmerber S

    European annals of otorhinolaryngology, head and neck diseases 2019; (136(3)):215-217 doi:10.1016/j.anorl.2019.02.015.

    PMID: 30876851
  25. 25

    Endocrine manifestations of PHACE syndrome.

    Bongsebandhu-Phubhakdi C, Tempark T, Supornsilchai V

    Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(8)):797-802.

    PMID: 31323007
  26. 26

    A case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions.

    Bongsebandhu-Phubhakdi C, Tempark T, Jakchairoongruang K, Supornsilpchai V

    Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(11)):1283-1286.

    PMID: 31473685
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    Evaluating the Safety of Oral Propranolol Therapy in Patients With PHACE Syndrome.

    Olsen GM, Hansen LM, Stefanko NS, et al.

    JAMA dermatology 2020; (156(2)):186-190 doi:10.1001/jamadermatol.2019.3839.

    PMID: 31825455
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    PHACE Syndrome: A Rare Case.

    Taslicay CA, Dervisoglu E, Ciftci E, et al.

    Journal of pediatric genetics 2020; (9(1)):27-31 doi:10.1055/s-0039-1694705.

    PMID: 31976140
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    Frey syndrome-like developmental dysautonomia in a child with PHACE syndrome.

    Kurian SR, Siegfried EC

    Pediatric dermatology 2020; (37(3)):568-569 doi:10.1111/pde.14125.

    PMID: 32101632
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    Epidemiology, Clinical Features, and Use of Early Supportive Measures in PHACE Syndrome: A European Multinational Observational Study.

    Disse SC, Toelle SP, Schroeder S, et al.

    Neuroepidemiology 2020; (54(5)):383-391 doi:10.1159/000508187.

    PMID: 32610335
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    Fetal neuroimaging findings in PHACE syndrome: case report and review of the literature.

    Sepulveda W, Sepulveda F

    The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2022; (35(14)):2751-2758 doi:10.1080/14767058.2020.1799349.

    PMID: 32723018
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    Sternal cleft and segmental facial hemangiomas in children with phaces syndrome: effectiveness and safety of conservative management and surgical correction.

    Benzar IM, Levytskyi AF, Pylypko VM

    Wiadomosci lekarskie (Warsaw, Poland : 1960) 2020; (73(6)):1267-1271.

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    Arterial Spin-Labeling Perfusion for PHACE Syndrome.

    Mamlouk MD, Vossough A, Caschera L, et al.

    AJNR. American journal of neuroradiology 2021; (42(1)):173-177 doi:10.3174/ajnr.A6871.

    PMID: 33214180
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    PHACES Syndrome with Intestinal Hemangioma Causing Recurrent Intussusceptions: A Case Report and Literature Review of Associated Intestinal Hemangioma.

    Al-Musalhi B, Al-Balushi Z

    Oman medical journal 2020; (35(6)):e204 doi:10.5001/omj.2020.99.

    PMID: 33403127
  35. 35

    PHACE Syndrome Presenting With Retinal Degeneration, Cortical Dysplasia, Microphthalmia, and Atrial Septal Defect in a South Asian Boy.

    Dayasiri K, Thadchanamoorthy V

    Cureus 2021; (13(1)):e12928 doi:10.7759/cureus.12928.

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    Nd:YAG laser in association with pulsed dye laser for the treatment of PHACES syndrome.

    Negosanti F, Silvestri M, Bennardo L, et al.

    Dermatology reports 2021; (13(1)):8751 doi:10.4081/dr.2021.8751.

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    PHACES Syndrome and Associated Anomalies: Risk Associated With Small and Large Facial Hemangiomas.

    Proisy M, Powell J, McCuaig C, et al.

    AJR. American journal of roentgenology 2021; (217(2)):507-514 doi:10.2214/AJR.20.23488.

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    Neuroaxial Infantile Hemangiomas: Imaging Manifestations and Association with Hemangioma Syndromes.

    Feygin T, Goldman-Yassen AE, Licht DJ, et al.

    AJNR. American journal of neuroradiology 2021; (42(8)):1520-1527 doi:10.3174/ajnr.A7204.

    PMID: 34244133
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    Phace Syndrome in Children: Two Case Reports.

    Imrani K, El Haddad S, Allali N, Chat L

    Radiology case reports 2021; (16(12)):3882-3886 doi:10.1016/j.radcr.2021.09.023.

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    Ophthalmic involvement in PHACES syndrome: prevalence, spectrum of anomalies, and outcomes.

    Soliman SE, Wan MJ, Pennal A, et al.

    Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2022; (26(3)):129.e1-129.e7 doi:10.1016/j.jaapos.2022.01.011.

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    Sirolimus for diffuse intestinal infantile hemangioma with PHACE features: systematic review.

    Kleinman EP, Blei F, Adams D, Greenberger S

    Pediatric research 2023; (93(6)):1470-1479 doi:10.1038/s41390-022-02325-z.

    PMID: 36180586
  42. 42

    Surgical repair of interrupted right-sided cervical aortic arch with hypoplasia of the descending thoracic aorta in a child with PHACE syndrome.

    Al Kindi H, Mohsen A, Zacharias S, Maddali MM

    European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery 2023; (63(5)) doi:10.1093/ejcts/ezad171.

    PMID: 37094228
  43. 43

    Long-term follow-up of patients with extensive segmental infantile hemangioma of the cervical or facial region: A French single-center prospective study.

    Lamotte M, Paris C, Euvrard E, et al.

    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2023; (30(6)):366-371 doi:10.1016/j.arcped.2023.03.009.

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    PHACE(S) Syndrome with Ocular Involvements and No Periocular Hemangioma.

    Kalambe AS, Sugihara K, Yamamoto K, et al.

    Case reports in ophthalmology 2023; (14(1)):477-483 doi:10.1159/000533887.

    PMID: 37901638
  45. 45

    Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10.

    Braun M, Frieden IJ, Siegel DH, et al.

    The Journal of pediatrics 2024; (267()):113907 doi:10.1016/j.jpeds.2024.113907.

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    PHACE syndrome: a case report and a comprehensive review.

    William M, Bhusal A, Umar SM, et al.

    Annals of medicine and surgery (2012) 2024; (86(4)):2286-2291 doi:10.1097/MS9.0000000000001759.

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    Long-term clinical and radiological trajectories of craniocervical vasculopathy in children with PHACE syndrome.

    Hausman-Kedem M, Widjaja E, Vieira Neto RJ, et al.

    Developmental medicine and child neurology 2024; (66(10)):1348-1360 doi:10.1111/dmcn.15916.

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    PHACE syndrome: A review.

    Keith L

    Seminars in pediatric neurology 2024; (51()):101152 doi:10.1016/j.spen.2024.101152.

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    Oral propranolol and its impact on vital signs in hospitalized pediatric patients for the Management of Infantile Hemangiomas.

    Rypka K, Bellefeuille G, Wendland Z, et al.

    Pediatric dermatology 2025; (42(2)):245-250 doi:10.1111/pde.15740.

    PMID: 39963769
  50. 50

    A Multimodal Approach to a Complex PHACES Patient With Progressive Infantile Hemangioma: A Case Report and Review of Literature.

    Hicks ED, Hameed M, Shahare H, et al.

    Cureus 2025; (17(3)):e80261 doi:10.7759/cureus.80261.

    PMID: 40196066
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    PHACE syndrome: looking backward and forward.

    Zhang K, Xiang S, Zhou J, et al.

    Orphanet journal of rare diseases 2025; (20(1)):345 doi:10.1186/s13023-025-03899-7.

    PMID: 40624699
  52. 52

    Facing PHACES Syndrome; Anesthesiologist's Point of View.

    Abtahi D, Shakeri A, Tajbakhsh A

    Anesthesiology and pain medicine 2023; (13(6)):e141896 doi:10.5812/aapm-141896.

    PMID: 41112824
  53. 53

    Multi-center study of long-term evolution of neuroimaging findings in PHACE syndrome.

    George E, Braun M, Vassar R, et al.

    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2026; (61()):1-7 doi:10.1016/j.ejpn.2026.02.004.

    PMID: 41702291
  54. 54

    PHACE (Posterior Fossa Brain Malformations, Hemangiomas, Arterial Anomalies, Cardiac Defects, and Eye Abnormalities) Syndrome in a Newborn With Bilateral Ocular Hemangiomas: The Importance of Early Recognition and Multidisciplinary Management.

    Overholt CM, Middleton ML, Lossius MN, Gonzalez JC

    Cureus 2026; (18(3)):e106213 doi:10.7759/cureus.106213.

    PMID: 42077723
  55. 55

    Tailored strategies for recurrent aortic coarctation in a pediatric patient with Pascual-Castroviejo type II syndrome and Moyamoya Syndrome.

    Ripoli F, Giordano M, Gaio G, et al.

    Annals of pediatric cardiology 2026; (19(1)):68-71 doi:10.4103/apc.apc_265_25.

    PMID: 42112070
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    PHACE syndrome with severe aortic arch tortuosity: a case report.

    Masuda Y, Ogino K, Hayashi T, Waki K

    European heart journal. Case reports 2026; (10(7)):ytag486 doi:10.1093/ehjcr/ytag486.

    PMID: 42518533
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    PHACE syndrome in an infant: the importance of multidisciplinary screening in extensive facial infantile haemangiomas.

    Lopez Carrera YI, Valdez Maya A, Ortiz Farris M

    BMJ case reports 2026; (19(8)) doi:10.1136/bcr-2026-273029.

    PMID: 42618307
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    PHACE syndrome: a systematic literature review and illustrative case report of a patient with severe cerebrovascular and neurodevelopmental sequelae.

    Gnazzo M, Caiazza L, Sirocchi C, et al.

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2026; (47(10)).

    PMID: 42696043