PHACE é um acrônimo usado para descrever uma síndrome caracterizada pela associação de malformações cerebrais da fossa posterior, grandes hemangiomas faciais, anomalias anatômicas das artérias cerebrais, coarctação da aorta e outras anomalias cardíacas, e anormalidades oculares. Às vezes, anomalias esternais também estão presentes e, nesses casos, a síndrome é chamada de PHACES. Duas manifestações adicionais foram recentemente adicionadas ao espectro clínico da síndrome PHACE: estenose dos vasos da base do crânio e dilatações longitudinais segmentares da artéria carótida interna.
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PHACE é um acrônimo usado para descrever uma síndrome caracterizada pela associação de malformações cerebrais da fossa posterior, grandes hemangiomas faciais, anomalias anatômicas das artérias cerebrais, coarctação da aorta e outras anomalias cardíacas, e anormalidades oculares. Às vezes, anomalias esternais também estão presentes e, nesses casos, a síndrome é chamada de PHACES. Duas manifestações adicionais foram recentemente adicionadas ao espectro clínico da síndrome PHACE: estenose dos vasos da base do crânio e dilatações longitudinais segmentares da artéria carótida interna.
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Publicações mais relevantes
Stridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.
Stridor is a common presenting complaint in infancy. Its aetiology ranges from benign to severe, life-threatening conditions. We report here a 2-month-old child who presented with respiratory distress and stridor since 20 days of life, with intermittent worsening. On examination, there was a haemangioma on the right ear lobe. A similar lesion in the airway was suspected, and flexible bronchoscopy revealed an airway haemangioma in the larynx extending up to the carina. Further workup was performed given haemangioma in the facial region that led to a diagnosis of the Posterior fossa malformations, Arterial anomalies, and Coarctation of the aorta, along with other cardiac defects and Eye abnormalities (PHACE) syndrome. Following oral propranolol, there was a significant improvement in symptoms. This case highlights that airway haemangioma should be suspected in infants presenting with stridor and haemangioma, especially in the facial area. Once the diagnosis is confirmed, the child should be further evaluated for underlying PHACE syndrome.
Multi-center study of long-term evolution of neuroimaging findings in PHACE syndrome.
Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac anomalies and Eye anomalies (PHACE) is a neurocutaneous disorder characterized by various neuroimaging abnormalities, including cranio-cervical arterial anomalies. The purpose of this multi-center study is to assess the long-term evolution of neuroimaging findings in PHACE, with focus on progressive arteriopathy and intracranial hemangioma. Patients with definite PHACE who were ≥10 years of age were recruited from 16 sites. A pediatric neuroradiologist retrospectively reviewed clinical MRI/MRA or CTA reports collected from two timepoints: neuroimaging performed closest to 1 year of life and the latest available neuroimaging at the time of recruitment. Brain structural abnormalities (including intracranial hemangiomas), infarcts, cerebrovascular anomalies (including vascular risk score) and evidence of progressive arteriopathy were identified. Study included 83 patients with definite PHACE (median age at recruitment: 14 years (IQR: 12-18)) with a median of 9 years (IQR: 6-12) between scans. Progression of arteriopathy was identified in 20/68 (29.4%), including 5/68 (7%) with Moyamoya arteriopathy. The vascular risk score at initial imaging was not associated with progressive arteriopathy. Two children (2%) had infarcts; one of whom had a progressive arteriopathy. The presence of intracranial hemangioma was associated with Meckel's cave enlargement and follow-up imaging suggests Meckel's cave enlargement may at least partly be related to involution of an intracranial hemangioma. Almost one third of children with PHACE had a progressive cerebrovascular arteriopathy on long term follow-up imaging, but infarcts were rare. Further research is necessary to guide recommendations on duration and frequency of imaging surveillance.
Early diagnosis of PHACE syndrome following antenatal diagnosis of cerebellar abnormality.
A 4-week-old with a segmental hemangioma, sternal defect, and posterior fossa malformation.
Beta-blockers efficacy and safety in the treatment of PHACE syndrome: A systematic review.
Publicações recentes
PHACE syndrome: report of five cases.
🥉 Relato de casoStridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.
Multi-center study of long-term evolution of neuroimaging findings in PHACE syndrome.
Early diagnosis of PHACE syndrome following antenatal diagnosis of cerebellar abnormality.
A 4-week-old with a segmental hemangioma, sternal defect, and posterior fossa malformation.
📚 EuropePMC193 artigos no totalmostrando 167
Stridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.
Clinical medicine insights. PediatricsMulti-center study of long-term evolution of neuroimaging findings in PHACE syndrome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyEarly diagnosis of PHACE syndrome following antenatal diagnosis of cerebellar abnormality.
Archives of disease in childhood. Fetal and neonatal editionA 4-week-old with a segmental hemangioma, sternal defect, and posterior fossa malformation.
JAAD case reportsA Unique Case of Beard-Distributed Infantile Hemangioma With Subglottic Extension and Evaluation for PHACE Syndrome.
Ear, nose, & throat journalLUMBAR Syndrome State-Of-The-Art Review: Insights Into a Rare and Complex Condition.
Pediatric dermatologyGeneration of human induced pluripotent stem cell lines from patients with PHACE syndrome.
Stem cell researchBeta-blockers efficacy and safety in the treatment of PHACE syndrome: A systematic review.
Journal of the European Academy of Dermatology and Venereology : JEADVPHACE syndrome: looking backward and forward.
Orphanet journal of rare diseasesConnecting prenatal ultrasound characteristics with postnatal findings in a case of PHACE syndrome.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyUnilateral Facial Swelling in a One-Month-Old Male - An Atypical Presentation of Infantile Hemangioma: Case Report.
Integrative medicine (Encinitas, Calif.)A Retrospective Study of Infant and Maternal Risk Factors in LUMBAR Syndrome.
Molecular genetics & genomic medicineManifestation of a Vestibular Schwannoma in a Patient With PHACE Syndrome.
CureusPutting LUMBAR on Your Radar.
Pediatric annalsCongenital Cutaneous Hamartomas With Skeletal Muscle Differentiation Associated With LUMBAR Syndrome.
Pediatric dermatologyOral propranolol and its impact on vital signs in hospitalized pediatric patients for the Management of Infantile Hemangiomas.
Pediatric dermatologyCase Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta.
Frontiers in cardiovascular medicineSafety of beta blockers for the treatment of PHACE syndrome: A systematic review.
Journal of the American Academy of DermatologyMost common congenital syndromes with facial asymmetry: A narrative review.
Dental and medical problemsPHACEing a challenging diagnosis: Should we expand the phenotype?
Journal of medical imaging and radiation oncologyPHACE syndrome: A review.
Seminars in pediatric neurologyIn vivo angle dysgenesis in PHACE syndrome with developmental glaucoma.
BMJ case reportsInfantile Hemangioma with Minimal or Arrested Growth (IHMAG): A Retrospective Analysis of Clinical and Dermoscopic Diagnostic Clues.
Dermatology practical & conceptualDelphi Consensus on Diagnostic Criteria for LUMBAR Syndrome.
The Journal of pediatricsBeyond Infantile Hemangiomas: A Glimpse into Overlapping Rare Syndromes Emphasizing the Vigilant Screening for PHACE and LUMBAR Syndromes.
Case reports in pediatricsAre repeat neuroimaging studies needed in PHACE syndrome?
Developmental medicine and child neurologyLong-term clinical and radiological trajectories of craniocervical vasculopathy in children with PHACE syndrome.
Developmental medicine and child neurologyPHACE syndrome: a case report and a comprehensive review.
Annals of medicine and surgery (2012)The Importance of Primary Care Physicians in the Diagnosis and Exclusion of Rare Syndromes: A Case Study of Ruling Out PHACE Syndrome.
CureusMulticenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10.
The Journal of pediatricsA rare case of neonatal PHACE syndrome with thyroid deficiency.
Asian journal of surgeryBeard neonatal hemangioma: report of a PHACE syndrome.
Acta neurologica BelgicaPropranolol Treatment for Facial Hemangioma in a Patient with Dandy-Walker Malformation and PHACE Syndrome: A Case Report.
Indian journal of dermatologyPHACE syndrome: not always 'tilting telephones' and Dandy-Walker malformations….
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyTuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome.
NeuropediatricsCongenital panhypopituitarism unmasked by PHACE screening.
JAAD case reportsPropranolol for the Treatment of Hemangioma in PHACE Syndrome: A Case Report.
Cureus[Current status and update of infantile hemangioma in diagnosis and therapy].
Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]Pediatric Moyamoya Revascularization Perioperative Care: A Modified Delphi Study.
Neurocritical careAn unusual case of unilateral vascular hypoplasia in an adult patient - late diagnosis of PHACE syndrome.
International journal of cardiology. Congenital heart diseasePHACE Syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Coarctation of the Aorta/ Cardiac Defects, and Eye Abnormalities) /Cutaneous Hemangioma-Vascular Complex Syndrome/Pascual-Castroviejo Type II Syndrome.
Indian journal of pediatricsPHACE Syndrome: Dramatic Response to Propranolol.
Indian dermatology online journalLong-term follow-up of patients with extensive segmental infantile hemangioma of the cervical or facial region: A French single-center prospective study.
Archives de pediatrie : organe officiel de la Societe francaise de pediatriePHACES-like syndrome with TMEM260 compound heterozygous variants.
American journal of medical genetics. Part ASurgical repair of interrupted right-sided cervical aortic arch with hypoplasia of the descending thoracic aorta in a child with PHACE syndrome.
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryAdult PHACE Syndrome Presenting With Visual Field Loss: A Case Report and Review of the Literature.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyRepair of Tortuous Distal Aortic Arch Aneurysm in a 1-Year-Old Girl With PHACE Syndrome.
Annals of thoracic surgery short reports"Face(s)" of a PHACE(S) Syndrome Patient before and after Therapy: Particular Case Report and Review of Literature.
Children (Basel, Switzerland)Intracranial hemangioma-associated cranial nerve VII palsy treated with propranolol in an infant with possible PHACE syndrome.
Pediatric dermatologySirolimus for diffuse intestinal infantile hemangioma with PHACE features: systematic review.
Pediatric researchSuccessful Management in an Infant Patient of PHACE Syndrome with a Complicated Aortic Arch Anomaly.
Case reports in pediatricsClinical overlap of PHACE and LUMBAR syndromes.
Pediatric dermatologyThe riddle of PHACE syndrome.
Journal of the European Academy of Dermatology and Venereology : JEADVOperative Surveillance of Airway Hemangiomas in PHACE Syndrome.
The Annals of otology, rhinology, and laryngologyA rare combination of post-ductal coarctation of the aorta and adjunct tortuous aneurysm: a neonate with Posterior fossa anomalies, Haemangiomas of the head and neck, Arterial, Cardiovascular, and Eye anomalies and ventral developmental defect syndrome.
Cardiology in the youngCorrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363-1367. Doi:10.1002/ajmg.a.35341.
American journal of medical genetics. Part AInfantile haemangiomas: Identifying high-risk lesions in primary care.
Australian journal of general practicePhace Syndrome in Children: Two Case Reports.
Radiology case reportsVascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies.
Frontiers in pediatricsThe Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.
Current problems in diagnostic radiologyTruncus arteriosus as presentation of PHACE syndrome.
BMJ case reportsInfantile hemangioma. Part 1: Epidemiology, pathogenesis, clinical presentation and assessment.
Journal of the American Academy of DermatologyNeonatal presentation of PHACE syndrome.
BMJ case reportsNeuroaxial Infantile Hemangiomas: Imaging Manifestations and Association with Hemangioma Syndromes.
AJNR. American journal of neuroradiologyPHACE syndrome: A remarkable phakomatosis.
Pediatrics and neonatologyPHACE Syndrome Presenting as Transient Ischemic Attack.
Neurology IndiaScepter-Mini Balloon Assisted Coil Embolization of an Intracranial Arterial Aneurysm in a Child with PHACE Syndrome via a Persistent Trigeminal Artery.
NeurointerventionArteriopathy in pediatric stroke: an underestimated clinical entity.
Arquivos de neuro-psiquiatriaAssociation of Demographic Factors and Infantile Hemangioma Characteristics With Risk of PHACE Syndrome.
JAMA dermatologyPHACE Syndrome Presenting With Retinal Degeneration, Cortical Dysplasia, Microphthalmia, and Atrial Septal Defect in a South Asian Boy.
CureusPHACES Syndrome with Intestinal Hemangioma Causing Recurrent Intussusceptions: A Case Report and Literature Review of Associated Intestinal Hemangioma.
Oman medical journalArterial Spin-Labeling Perfusion for PHACE Syndrome.
AJNR. American journal of neuroradiologyAirway Hemangiomas in PHACE Syndrome: A Multicenter Experience.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryUtilisation of advanced MRI techniques to understand neurovascular complications of PHACE syndrome: a case of arterial stenosis and dissection.
BMJ case reportsPHACE syndrome in a preterm infant.
NeurologyMorning glory disc anomaly associated with large facial infantile hemangioma as the presenting signs of PHACE syndrome.
Arquivos brasileiros de oftalmologiaPersistent second cervical intersegmental artery in a case of possible PHACE syndrome.
Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciencesSternal cleft and segmental facial hemangiomas in children with phaces syndrome: effectiveness and safety of conservative management and surgical correction.
Wiadomosci lekarskie (Warsaw, Poland : 1960)Fetal neuroimaging findings in PHACE syndrome: case report and review of the literature.
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 ObstetriciansPHACE Syndrome in a Child with Structural Malformations of the Brain.
Journal of pediatric geneticsHemangioma-related syndromes.
Current opinion in pediatricsUnrelenting facial segmental hemangiomas: A case series of late growth and recurrent ulcerations.
Pediatric dermatologyEpidemiology, Clinical Features, and Use of Early Supportive Measures in PHACE Syndrome: A European Multinational Observational Study.
NeuroepidemiologyPHACE syndrome: importance of distinguishing infantile haemangioma from capillary malformation.
Archives of disease in childhood. Fetal and neonatal editionFrey syndrome-like developmental dysautonomia in a child with PHACE syndrome.
Pediatric dermatologySegmental infantile hemangioma and concomitant hypertension in three African American neonates.
Pediatric dermatologyPHACE Syndrome: A Rare Case.
Journal of pediatric geneticsTwo Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome.
Case reports in geneticsEvaluating the Safety of Oral Propranolol Therapy in Patients With PHACE Syndrome.
JAMA dermatologyIntrathoracic hybrid lesion: an incidental finding in a patient with PHACE syndrome.
BMJ case reportsFacial segmental haemangioma with PHACE Syndrome successfully treated with oral propranolol.
The Medical journal of MalaysiaPHACE syndrome and hearing loss.
Anais brasileiros de dermatologiaTransient ischemic attack in elderly patient with PHACE syndrome.
Surgical neurology internationalHamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes.
Pediatric dermatologyA case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions.
Journal of pediatric endocrinology & metabolism : JPEMInfantile hemangioma of the upper lip and enamel hypoplasia: Two case reports.
Pediatric dermatologyDieulafoy lesions and PHACE syndrome.
Pediatric dermatologyEndocrine manifestations of PHACE syndrome.
Journal of pediatric endocrinology & metabolism : JPEMNatural history of PHACE syndrome: A survey of adults with PHACE.
Pediatric dermatologySurgery on a dilated aorta associated with a connective tissue disease or inflammatory vasculitis in children and adolescents.
Cardiology in the young[Infantile haemangioma: an update].
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte GebietePHACE syndrome with unnoticeable skin lesion and rare anomaly of coronary artery.
Pediatrics international : official journal of the Japan Pediatric SocietyMoyamoya angiopathy in PHACE syndrome not associated with RNF213 variants.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryDental root abnormalities in four children with PHACE syndrome.
Pediatric dermatologyPersistent stapedial artery in PHACE syndrome.
European annals of otorhinolaryngology, head and neck diseasesMoyamoya syndrome and PHACE syndrome: clinical and radiographic characterization of the intracranial arteriopathy and response to surgical revascularization.
Journal of neurosurgery. PediatricsUnsolved recognizable patterns of human malformation: Challenges and opportunities.
American journal of medical genetics. Part C, Seminars in medical geneticsPHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause.
American journal of medical genetics. Part C, Seminars in medical geneticsAtypical Presentation of PHACE Syndrome: Hidden Facial Hemangioma.
Pediatric neurosurgeryLate growth of infantile hemangiomas in children >3 years of age: A retrospective study.
Journal of the American Academy of DermatologyOcular Complications in PHACE Syndrome: A True Association or a Coincidence?
The Journal of pediatricsInfantile hemangioma with minimal or arrested growth as the skin manifestation of PHACE syndrome.
Pediatric dermatology[Diagnostic criteria and treatment progress of PHACE syndrome].
Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatologyPHACE syndrome: clinical manifestations, diagnostic criteria, and management.
Anais brasileiros de dermatologiaRegarding: "Localized Marked Elongation of the Distal Internal Carotid Artery with or without PHACE Syndrome: Segmental Dolichoectasia of the Distal Internal Carotid Artery".
AJNR. American journal of neuroradiologyInfantile hemangiomas: what have we learned from propranolol?
Current opinion in pediatricsHearing loss in PHACE syndrome: clinical and radiologic findings.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryDistal aortic arch aneurysm in an adult case of PHACE syndrome.
Interactive cardiovascular and thoracic surgeryOpen resection and laryngotracheal reconstruction in a case of subglottic hemangioma in PHACE syndrome.
International journal of pediatric otorhinolaryngologyLocalized Marked Elongation of the Distal Internal Carotid Artery with or without PHACE Syndrome: Segmental Dolichoectasia of the Distal Internal Carotid Artery.
AJNR. American journal of neuroradiology[What's new in pediatric dermatology?].
Annales de dermatologie et de venereologie[Research progresses in the pathogenesis, diagnosis and treatment of infantile hemangioma with PHACE syndrome].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsReversible profound sensorineural hearing loss due to propranolol sensitive hemangioma in an infant with PHACE syndrome.
International journal of pediatric otorhinolaryngologyPHACE Syndrome-before and after Propranolol Therapy.
The Journal of pediatricsStructural malformations of the brain, eye, and pituitary gland in PHACE syndrome.
American journal of medical genetics. Part APHACE syndrome in a child with segmental IH of face.
BMJ case reportsMoyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature.
World neurosurgeryPrenatal Risk Factors for PHACE Syndrome: A Study Using the PHACE Syndrome International Clinical Registry and Genetic Repository.
The Journal of pediatricsCardio-cephalic neural crest syndrome: A novel hypothesis of vascular neurocristopathy.
Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciencesWhen Faced With Anesthetizing an Infant With PHACE Syndrome: Watch Out for an Airway-Occluding Subglottic Hemangioma!
A & A case reportsPeters anomaly in PHACE syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusRNF213 variants in a child with PHACE syndrome and moyamoya vasculopathy.
American journal of medical genetics. Part APHACE(S) syndrome: Report of a case with new ocular and systemic manifestations.
Journal of current ophthalmologyPHACE syndrome and cerebral cavernous malformations: association or simply microhemorrhages?
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryTips and tricks to optimize MRI protocols for cutaneous vascular anomalies.
Clinical imagingUse of propranolol in a remote region of rural Guatemala to treat a large facial infantile haemangioma.
BMJ case reportsAortic arch tortuosity with PHACE syndrome - a rare case scenario.
Images in paediatric cardiologyHemangioma, aortic coarctation and intracranial dolichoectasia: PHACE syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyPhace syndrome: is timolol gel a chance for treatment?
Journal of the European Academy of Dermatology and Venereology : JEADVSegmental hemangioma of the head and neck: High prevalence of PHACE syndrome.
Journal of the American Academy of DermatologyMultiple Pathological Ocular Findings in a Patient With PHACE Syndrome.
Journal of pediatric ophthalmology and strabismusPHACE Syndrome: Consensus-Derived Diagnosis and Care Recommendations.
The Journal of pediatrics[Neonatal use of propranolol for segmental facial hemangiomas].
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia PediatricaInfantile hemangiomas and structural anomalies: PHACE and LUMBAR syndrome.
Seminars in cutaneous medicine and surgeryNeurodevelopmental Outcomes in Children with PHACE Syndrome.
Pediatric dermatologyGigantic vascular anomaly in a PHACE syndrome patient managed with photodynamic therapy.
Photodiagnosis and photodynamic therapyAortic arch anomalies in PHACE syndrome: An individualized approach to an unusual problem.
The Journal of thoracic and cardiovascular surgeryAortic arch repair in children with PHACE syndrome.
The Journal of thoracic and cardiovascular surgeryPHACE syndrome is associated with intracranial cavernous malformations.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFetal Alcohol Exposure and PHACE Syndrome: A Case and Autopsy Report.
Pediatric dermatologyPHACE syndrome with lip haemangioma, microphthalmos and persistent fetal vasculature.
BMJ case reportsPHACE syndrome and congenitally absent thyroid gland at MR imaging.
Clinical imagingPrenatal unilateral cerebellar hypoplasia diagnosed as PHACE syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryMosaic Neurocutaneous Disorders and Their Causes.
Seminars in pediatric neurologyWilms Tumor in a Child With Bilateral Polycystic Kidneys and PHACE Syndrome: Successful Treatment Outcome Using Partial Nephrectomy and Chemotherapy.
Journal of pediatric hematology/oncologyAnesthetic Management of a Parturient with PHACE Syndrome for Cesarean Delivery.
A & A case reportsPHACE syndrome--clinical features, aetiology and management.
Acta paediatrica (Oslo, Norway : 1992)Office-Based Subglottic Evaluation in Children With Risk of Subglottic Hemangioma.
The Annals of otology, rhinology, and laryngologyOrbital Hemangioma with Intracranial Vascular Anomalies and Hemangiomas: A New Presentation of PHACE Syndrome?
Pediatric dermatologyBilateral pial synangiosis in a child with PHACE syndrome.
Journal of neurosurgery. PediatricsPrevalence and Clinical Characteristics of Headaches in PHACE Syndrome.
Journal of child neurologyLymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome.
Case reports in dermatological medicinePHACE syndrome misdiagnosed as a port-wine stain.
BMJ case reportsSimultaneous Repair of Right-Sided Coarctation and Vascular Ring.
The Annals of thoracic surgeryNeuroimaging Manifestations of PHACE Syndrome.
Pediatric neurology[Infantile segmental hemangioma without facial involvement: A cutaneous marker of vascular malformations such as in PHACE syndrome?].
Annales de dermatologie et de venereologieAortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course.
Echocardiography (Mount Kisco, N.Y.)Associações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Stridor as an Initial Manifestation of Underlying PHACE Syndrome in an Infant: A Case Report and Comprehensive Review.
- Multi-center study of long-term evolution of neuroimaging findings in PHACE syndrome.European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society· 2026· PMID 41702291mais citado
- Early diagnosis of PHACE syndrome following antenatal diagnosis of cerebellar abnormality.
- A 4-week-old with a segmental hemangioma, sternal defect, and posterior fossa malformation.
- Beta-blockers efficacy and safety in the treatment of PHACE syndrome: A systematic review.Journal of the European Academy of Dermatology and Venereology : JEADV· 2026· PMID 40746024mais citado
- PHACE syndrome: report of five cases.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:42775(Orphanet)
- OMIM OMIM:606519(OMIM)
- MONDO:0011676(MONDO)
- GARD:8338(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q3377927(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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