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Síndrome Gardner
ORPHA:79665CID-11 · LD2D.3DOENÇA RARA

Síndrome de Gardner é um transtorno genético caracterizado pela presença de pólipos múltiplos no cólon em associação com tumores fora do cólon, além de osteomas e anomalias dentais. Os tumores fora do cólon podem incluir osteomas do crânio, câncer de tireóide, cistos epidermóides, fibromas e cistos sebáceos. Os incontáveis pólipos no cólon predispõem o desenvolvimento de câncer de cólon. Os pólipos também podem crescer no estômago, duodeno e intestino delgado.

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Introdução

O que você precisa saber de cara

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Síndrome rara caracterizada por polipose adenomatosa colorretal hereditária, associada a tumores extraintestinais como osteomas, lesões cutâneas e tumores do sistema nervoso central. Predispõe ao desenvolvimento de câncer colorretal e outros tumores malignos.

Pesquisas ativas
1 ensaio
2 total registrados no ClinicalTrials.gov
Publicações científicas
413 artigos
Último publicado: 2026 Mar 30
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Total histórico413PubMed
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Publicações mais relevantes

Timeline de publicações
126 papers (10 anos)
#1

Gardner syndrome initially misdiagnosed as bilateral breast malignancy: a case report and literature review.

Frontiers in oncology2026

To report a rare case of Gardner syndrome (GS) initially presenting with bilateral breast masses, emphasizing the diagnostic challenges of atypical manifestations and the importance of multidisciplinary collaboration. A retrospective analysis was conducted using clinical data, multimodal imaging (ultrasound, mammography, magnetic resonance imaging, and computed tomography), histopathological evaluation via core needle biopsy, and multidisciplinary team (MDT) consultation. Colonoscopy was performed to confirm systemic involvement. A 27-year-old woman presented with bilateral breast masses that were initially suspected to be malignant. Imaging revealed irregular spiculated lesions mimicking invasive carcinoma. Histopathological examination confirmed the presence of fibromatosis in both breasts and the right interpectoral region. Systemic evaluation revealed craniofacial osteomas, subcutaneous/muscular soft tissue tumors, left adrenal adenoma, and multiple colorectal polyps (superficial serrated adenomas). MDT review confirmed GS based on intestinal polyposis, osteomas, soft-tissue tumors, and histopathological criteria. This case underscores the critical role of multimodal imaging, histopathology, and MDT collaboration in clinical diagnosing GS with rare breast involvement. A systematic evaluation of extracolonic manifestations (e.g., adrenal adenomas) and the recognition of fibromatosis mimicking malignancy are essential for early diagnosis. Genetic evaluation and interdisciplinary management optimize the outcomes of complex hereditary syndromes.

#2

Oral and Maxillofacial Manifestations of Gardner Syndrome: A Literature Analysis.

The Journal of craniofacial surgery2026

Gardner syndrome (GS) is a rare autosomal condition of neoplasms and adenomatous polyps, particularly in the colon and rectum. If left untreated, these polyps develop into colon cancer. Thus, early diagnosis is crucial to improve prognosis among patients. However, the majority of the existing research is limited to single case studies, which lack generalizability. Therefore, this systematic review provides a thorough synthesis of GS-related dental symptoms along with diagnostic and treatment options, and outcomes in the published literature. A comprehensive literature search was conducted across 2 databases and the Google Scholar search engine. Case reports detailing oral symptoms in GS patients were included. The extracted information was synthesized using descriptive measures (frequencies and percentages) in a tabular format. Of 676 studies, 33 studies were found eligible and evaluated statistically. GS has been investigated in 38 cases, with a larger prevalence among males than females. Mandibular osteomas/odontomas/dermoid cysts were the most frequently reported symptoms (84.21%). Teeth-related symptom was impacted teeth (50%), supernumerary teeth (23.68%), and missing teeth (18.42%). The predominant radiographic findings were osteomas (84.21%), followed by irregular and dense bony regions in the mandible (50%). In 23.68% of cases, osteoma was resected. Teeth extraction was performed in 21.05% of cases. In total, 5.26% had osteoma recurrence. Oral and maxillofacial features can serve as a significant diagnostic indicator for screening and subsequent confirmation of GS in affected patients, allowing for timely referral and care. Dental professionals must be properly trained to identify the dental and maxillofacial manifestations of the disease.

#3

Peripheral nerve sheath tumors in the head and neck in patients with APC gene deletion mutations: a case report and scoping review of the literature.

Clinical and experimental pediatrics2025 Jun

Adenomatous polyposis coli (APC) is a tumor suppressor gene expressed throughout the body. APC mutations increase the risk of malignancy and are often characterized by syndromes that encompass a spectrum of neoplastic manifestations, such as familial adenomatous polyposis (FAP). We present a rare case of palatal peripheral nerve sheath tumor in the context of APC gene mutation. A 17-year-old male with a significant history of FAP presented to our clinic with globus sensation for 5 months with increasing discomfort. Flexible nasolaryngoscopy revealed a pedunculated lesion attached to the posterior surface of the soft palate. Imaging was obtained and confirmed a soft tissue homogenous mass contiguous with the soft palate. Endoscopic-assisted transoral resection was performed and pathologic features were consistent with schwannoma. We also discuss the spectrum of benign neoplastic lesions. Current literature fails to describe pharyngeal masses in the setting of APC gene mutations. The purpose of this case report is to describe a patient presentation of a symptomatic pharyngeal tumor with a known APC gene mutation and explore the differential diagnoses that must be considered.

#4

Familial adenomatous polyposis family with clustering of psychiatric disorders.

Japanese journal of clinical oncology2025 Apr 06

Familial adenomatous polyposis (FAP) is an inherited disorder that follows an autosomal dominant inheritance pattern and is caused by a germline pathogenic variant in the APC gene. FAP also has extracolonic manifestations, including osteomas, brain tumors, and congenital hypertrophy of the retinal pigmented epithelium. Desmoid tumor is a rare soft-tissue tumor often associated with FAP. APC is a WNT signal transduction molecule that is abundantly expressed in the central nervous system. The truncation mutations of the APC gene are responsible for FAP. Further, the C-terminal domains of APC associate with proteins such as EB1 and hDLG, which are involved in central nervous system functions. In recent years, several reports have indicated an association between FAP and mental disorders. We have identified a family with FAP that has a cluster of mental disorders. The female probrand experienced FAP and desmoid tumors in her thirties. She underwent a total colectomy and tumor resection. Her genetic test revealed a pathogenic germline pathogenic variant in the APC gene, c.3183_3187del. Her maternal grandmother and great-grandmother had colorectal polyposis. She has some mental disorders, and her son and daughter both have autism spectrum disorder (ASD). It was reported that her younger sister and her two daughters have intellectual disability and symptoms of ASD. For these situations, we found that mental health care is crucial when providing genetic counseling and medical care, especially to younger patients with FAP and carriers of pathological variants of the APC gene.

#5

Peripheral Osteoma of the Maxillary Sinus in a Patient Planned for Sinus Augmentation.

Cureus2025 Sep

Osteomas are slow-growing benign tumors that almost exclusively occur in the craniofacial region and more often in the ethmoid air cells. When they occasionally occur in the maxillary sinuses, they can interfere with dental procedures like sinus augmentation. This study presents the case of a 59-year-old male patient who was treated for sinus augmentation of the left maxillary sinus. During the treatment planning phase, a peripheral osteoma was identified with cone beam computed tomography (CBCT) as an incidental finding without any clinical signs or symptoms. The sinus augmentation procedure was accomplished, and the patient underwent follow-up to confirm no changes in the osteoma. Peripheral osteomas of the head and neck region are usually described radiographically as well-defined and well-circumscribed without clinical signs. Their presence can sometimes interfere with dental treatment, complicating the surgical procedure and even compromising results. Due to their benign and slow-growing nature, and based on their location, size, and clinical relevance, they may not require treatment; however, follow-up is recommended. Peripheral osteomas constitute one of the early findings of familial adenomatous polyposis (Gardner syndrome). This rare autosomal dominant disease is characterized by intestinal polyps and extra-intestinal features, like multiple osteomas and soft-tissue tumors. The early detection of such lesions in the maxillofacial region can lead to timely diagnosis and subsequently improve the prognosis of the patient.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC195 artigos no totalmostrando 155

2026

Gardner syndrome initially misdiagnosed as bilateral breast malignancy: a case report and literature review.

Frontiers in oncology
2025

A new ultrasonographic pattern of infundibular cysts associated with Gardner syndrome.

Dermatology online journal
2025

Peripheral Osteoma of the Maxillary Sinus in a Patient Planned for Sinus Augmentation.

Cureus
2025

Functional shoulder girdle reconstruction in paediatric desmoid tumour.

Journal of surgical case reports
2026

Oral and Maxillofacial Manifestations of Gardner Syndrome: A Literature Analysis.

The Journal of craniofacial surgery
2025

Familial multiple impacted supernumerary teeth: Case report.

The Journal of international medical research
2025

Surgical dilemmas in Gardner syndrome: infiltrative basal cell carcinoma and total knee prosthesis failure.

Journal of surgical case reports
2025

Pilomatricomas in a patient with Rubinstein-Taybi syndrome: diagnostic and therapeutic clues.

Therapeutic advances in rare disease
2025

Giant desmoid tumor of the abdominal wall: a case report.

International journal of surgery case reports
2025

Surprising finding of desmoid in a young man by an urologist.

Rozhledy v chirurgii : mesicnik Ceskoslovenske chirurgicke spolecnosti
2025

Gardner syndrome: When cervical-facial osteomas reveal the tip of the iceberg: A case report and literature review.

Radiology case reports
2025

Abdominal and intra-abdominal fibromatoses: Outcomes over time.

American journal of clinical pathology
2025

Peripheral nerve sheath tumors in the head and neck in patients with APC gene deletion mutations: a case report and scoping review of the literature.

Clinical and experimental pediatrics
2025

FDG PET/CT in a Case of Gardner Syndrome.

Clinical nuclear medicine
2025

Familial adenomatous polyposis family with clustering of psychiatric disorders.

Japanese journal of clinical oncology
2024

Clinicopathological and molecular insights into odontogenic tumors associated with syndromes: A comprehensive review.

World journal of experimental medicine
2025

Desmoid tumour: a rare cause of congenital unilateral calf enlargement mimicking calf hypertrophy.

Neuromuscular disorders : NMD
2024

Endoscopic Ultrasound-Guided Gastrojejunostomy for Severe Duodenal Polyposis From Gardner Syndrome.

The American journal of gastroenterology
2025

Gardner syndrome in a Tunisian family: Identification of a rare APC mutation through targeted NGS.

Gene
2024

Cerebellopontine angle craniopharyngioma in familial adenomatous polyposis.

Surgical neurology international
2024

A Rare Case of Peripheral Exophytic Osteoma of the Mandible Arising From an Extraction Site: Cone-Beam Computed Tomography (CBCT) Findings.

Cureus
2024

Large Peripheral Osteomas and Dental Implants: A Case Report.

Medicina (Kaunas, Lithuania)
2024

Case report: Initial atypical skeletal symptoms and dental anomalies as first signs of Gardner syndrome: the importance of genetic analysis in the early diagnosis.

Pathology oncology research : POR
2024

Superficial fibromas with CTNNB1 mutation.

Genes, chromosomes & cancer
2024

Surgical Proposition of a Slow-Growing Calvarial Exostosis in a Female Patient With a Congenital Iris Cyst of the Anterior Chamber and Mandibular Tori.

Cureus
2024

A rare case of Gardner syndrome in an African adult male: A case report.

Clinical case reports
2024

Diagnostic implications of Gardner Syndrome, case report of a familial adenomatous polyposis (FAP) variant, for eye care professionals.

International journal of surgery case reports
2024

Long-term follow-up of torpedo maculopathy: a case series and mini-review.

BMC ophthalmology
2024

A novel APC mutation associated with Gardner syndrome in a Chinese family.

Gene
2024

A role for total alloplastic temporomandibular joint replacement in Gardner syndrome.

International journal of oral and maxillofacial surgery
2023

Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.

Translational pediatrics
2023

Papillary thyroid carcinoma with desmoid fibromatosis: a case report and review of literature.

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)
2023

Classic and rare manifestations of multiple osteoma: A case report.

International journal of surgery case reports
2023

[Early treatment principles of tooth replacement disorders associated with hereditary oral diseases].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology
2023

APC-Related Phenotypes and Intellectual Disability in 5q Interstitial Deletions: A New Case and Review of the Literature.

Genes
2023

Extracolonic manifestations of Gardner syndrome: A case report.

Imaging science in dentistry
2023

MSH3: a confirmed predisposing gene for adenomatous polyposis.

Journal of medical genetics
2024

Atypical Gardner's Syndrome with Proptosis as the Primary Symptom.

Ophthalmology
2023

Multiple Gardner Syndrome Osteomas Mimicking Temporomandibular Ankylosis: Case Report.

Journal of maxillofacial and oral surgery
2023

Rare Genetic Variants in Human APC Are Implicated in Mesiodens and Isolated Supernumerary Teeth.

International journal of molecular sciences
2022

Gardner's syndrome: Simultaneous diagnosis and treatment in monozygotic twins.

Turkish journal of surgery
2022

Large Desmoid Tumor of the Pancreas: A Report of a Rare Case and Review of the Literature.

The American journal of case reports
2022

Gardner Syndrome With Breast Desmoid Tumors.

Mayo Clinic proceedings
2022

A Rare Case of Multiple Gastrointestinal Stromal Tumors Coexisting with a Rectal Adenocarcinoma in a Patient with Attenuated Familial Adenomatous Polyposis Syndrome and a Mini Review of the Literature.

Medicina (Kaunas, Lithuania)
2024

Orbital osteomas associated with Gardner's syndrome: a case presentation and review of literature.

Orbit (Amsterdam, Netherlands)
2022

Familial Adenomatous Polyposis (FAP) Presenting as Iron Deficiency Anemia in a 33-Year-Old Female: A Case Report.

Cureus
2022

Rare case of multiple and perforating pilomatrixomas in a young girl with lymphovascular malformation reveals a potential new disease association.

BMJ case reports
2022

Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.

Head and neck pathology
2022

Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.

International journal of clinical oncology
2021

Percutaneous ultrasound-guided radiofrequency ablation for giant desmoid tumors of the intra-abdominal cavity in a patient with Gardner syndrome.

Journal of cancer research and therapeutics
2022

Recurrent CTNNB1 mutations in craniofacial osteomas.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2021

Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome.

Diagnostics (Basel, Switzerland)
2021

Systemic considerations with pigmented fundus lesions and retinal pigment epithelium hamartomas in Turcot syndrome.

Current opinion in ophthalmology
2021

Phenotypic dento-osseous characterization of a Brazilian family with Familial Adenomatous Polyposis.

Archives of oral biology
2021

Gardner syndrome with odontogenic sinusitis: A case report.

Clinical case reports
2021

Diamond Gardner syndrome in a male: A case report.

Indian journal of psychiatry
2021

Multiple Giant Skull Osteomas Associated with Gardner's Syndrome.

Neurology India
2021

Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view.

Ophthalmic genetics
2021

Cutaneous desmoid-type fibromatosis: A rare case with molecular profiling.

Journal of cutaneous pathology
2021

Gardner-associated fibroma of the neck: role of a multidisciplinary evaluation for familial adenomatous polyposis diagnosis.

Tumori
2021

Accumulated genetic mutations leading to accelerated initiation and progression of colorectal cancer in a patient with Gardner syndrome: A case report.

Medicine
2021

[Cancer-associated genodermatoses].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete
2021

Possible Association Between Nickel and Multiple Osteomas of the Mandible in a Gir Bullock.

Biological trace element research
2021

A novel large deletion in the APC gene associated with Gardner syndrome in a Chinese family.

Revista espanola de enfermedades digestivas
2020

Gardner syndrome with giant abdominal desmoid tumor during pregnancy: a case report.

BMC surgery
2020

Pneumopericardium, pneumomediastinum and air travel: A case report in a patient with Gardner syndrome.

Respiratory medicine case reports
2020

A Large Sporadic Intra-abdominal Desmoid-Type Fibromatosis in a Young Male: A Case Report.

Frontiers in surgery
2020

Conservative management of a fourth ventricular epidermoid in a patient with Gardner syndrome.

Therapeutic advances in rare disease
2021

Adipocyte-rich CTNNB1-mutated Intramuscular Gardner Fibroma Progressing to Desmoid Fibromatosis.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2020

Multimodality imaging features of desmoid tumors: a head-to-toe spectrum.

Insights into imaging
2020

Genodermatoses with malignant potential.

Clinics in dermatology
2020

Pancreatic cystic desmoid tumor following metastatic colon cancer surgery: A case report.

Radiology case reports
2020

Gardner syndrome with a giant mass in the thoracic cavity: a case report and analysis of the related complications.

International journal of clinical and experimental pathology
2020

Nuchal-type Fibroma: Single-Center Experience and Systematic Literature Review.

In vivo (Athens, Greece)
2020

Treatment of multiple craniofacial osteomas by endoscopic approach.

Archives of craniofacial surgery
2020

Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome.

Case reports in gastrointestinal medicine
2022

Giant mesenteric fibromatosis associated with non-Hodgkin lymphoma. A case report and literature review.

Acta chirurgica Belgica
2020

Labyrinthitis Ossificans and Cholesteatoma Associated With Gardner Syndrome: A Rare Case.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2020

[A Surgical Case of Desmoid Tumor in the Transverse Mesocolon with Pancreatic Invasion].

Gan to kagaku ryoho. Cancer & chemotherapy
2020

Bowen disease with matrical differentiation: Report of an exceptional histopathologic presentation.

Journal of cutaneous pathology
2020

Complex Case of Aggressive Intra-abdominal Desmoid-type Fibromatosis Status Post Cholecystectomy.

Cureus
2020

Bilateral presentation of different supernumerary teeth in nonsyndromic patients: case reports.

General dentistry
2020

Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases.

Scientific reports
2019

[Turcot syndrome and Gardner's syndrome in a female patient with familial colon adenomatosis. A case report and literature review].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko
2020

The management of desmoid tumours: A joint global consensus-based guideline approach for adult and paediatric patients.

European journal of cancer (Oxford, England : 1990)
2020

[Familial adenomatous polyposis, desmoid tumors and Gardner syndrome].

Bulletin du cancer
2019

Superior vena cava syndrome due to mediastinal Gardner fibroma presenting as syncope.

BMJ case reports
2019

A Case of Early FAP Diagnosis with Extraintestinal Manifestations on the Face.

Acta medica academica
2020

Syndromes associated with multiple pilomatricomas: When should clinicians be concerned?

Pediatric dermatology
2019

[Gardner's syndrome, a rare disease].

Magyar sebeszet
2019

Imaging of Thoracic Wall Abnormalities.

Korean journal of radiology
2020

Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas.

Neuro-oncology
2019

The link between colon cancer and congenital hypertrophy of the retinal pigment epithelium (CHRPE).

American journal of ophthalmology case reports
2020

Ameloblastoma associated with syndromes: A systematic review.

Journal of stomatology, oral and maxillofacial surgery
2019

Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.

Genes
2019

Multiple osteomata from medieval Tuscany, Italy (ca. 10th-12th AD).

International journal of paleopathology
2019

Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations.

Archives of pathology & laboratory medicine
2019

A Case Report on Gardner Syndrome With Dental Implant Treatment and a Long-Term Follow-Up.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2019

Identification of aggressive Gardner syndrome phenotype associated with a de novo APC variant, c.4666dup.

Cold Spring Harbor molecular case studies
2019

Whole-body [18F]-fludeoxyglucose positron emission tomography in endocarditis: the story of a rare diagnosis.

European heart journal
2018

Maxillofacial Radiographic study of Gardner's syndrome presenting with odontogenic myxoma: A rare case report.

Stomatologija
2019

Gardner syndrome with maxillofacial manifestation: A case report.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2018

Bone and dental abnormalities as first signs of familial Gardner's syndrome in a Chinese family: a literature review and a case report.

Medecine sciences : M/S
2018

Gardener-associated fibroma: an unusual cause of upper airway obstruction.

BMJ case reports
2018

Mesenteric fibromatosis in a patient with a history of neuroblastoma: a case report.

Journal of surgical case reports
2018

[Gardner syndrome with chronic osteomyelitis of the jaw: a case report].

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology
2019

Shadow cells in a cutaneous epidermoid cyst: searching for a polyposis syndrome.

Gastroenterologia y hepatologia
2018

Childhood pilomatricomas: Associated anomalies.

Pediatric dermatology
2018

Head and neck presentation of Gardner Syndrome: A pediatric case series.

International journal of pediatric otorhinolaryngology
2018

Identification of a mutL‑homolog 1 mutation via whole‑exome sequencing in a Chinese family with Gardner syndrome.

Molecular medicine reports
2018

[Familiar adenomatous polyposis: report of 2 cases].

Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru
2018

[Clinicopathologic and molecular features of cribriform morular variant of papillary thyroid carcinoma].

Zhonghua bing li xue za zhi = Chinese journal of pathology
2018

An unusual finding in a desmoid-type fibromatosis of the pancreas: a case report and review of the literature.

Journal of medical case reports
2018

Epidermoid Cysts - A Wide Spectrum of Clinical Presentation and Successful Treatment by Surgery: A Retrospective 10-Year Analysis and Literature Review.

Open access Macedonian journal of medical sciences
2018

The importance of early diagnosis of gardner's syndrome in dental examination.

Nigerian journal of clinical practice
2018

Multiple Hybrid Cysts in a Child: Answer.

The American Journal of dermatopathology
2018

Germline APC mutations in hepatoblastoma.

Pediatric blood & cancer
2019

Reconstruction of a large full-thickness abdominal wall defect with flow-through-based alt flaps: A case report.

Microsurgery
2017

Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.

PloS one
2018

Spectrum of Hybrid Cysts and Their Clinical Significance.

The American Journal of dermatopathology
2018

A novel mutation of adenomatous polyposis coli (APC) gene results in the formation of supernumerary teeth.

Journal of cellular and molecular medicine
2017

Attenuated adenomatous polyposis of the large bowel: Present and future.

World journal of gastroenterology
2017

Solitary Peripheral Osteoma of the Hard Palate Case report and literature review.

Sultan Qaboos University medical journal
2017

Familial lumps of the lower jaw.

Journal of stomatology, oral and maxillofacial surgery
2017

[Hereditary bone tumors].

Der Pathologe
2017

Tumors and Related Lesions of the Pigmented Epithelium.

Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)
2017

An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.

Head and neck pathology
2016

Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts.

Imaging science in dentistry
2017

Unusual and Rare Locations for Craniopharyngiomas: Clinical Significance and Review of the Literature.

World neurosurgery
2017

[Ectopic craniopharyngioma and Gardner's syndrome: Case report and literature review].

Neurocirugia (Asturias, Spain)
2016

Familial non-medullary thyroid cancer: unraveling the genetic maze.

Endocrine-related cancer
2017

Giant Subcutaneous Solitary Gardner Fibroma of the Head of a Bulgarian Child.

The American Journal of dermatopathology
2016

A case study of an integrative genomic and experimental therapeutic approach for rare tumors: identification of vulnerabilities in a pediatric poorly differentiated carcinoma.

Genome medicine
2016

Gardner's syndrome presenting with a fibromatous tumour of the parotid.

European annals of otorhinolaryngology, head and neck diseases
2016

A role for the vitamin D pathway in non-intestinal lesions in genetic and carcinogen models of colorectal cancer and in familial adenomatous polyposis.

Oncotarget
2016

Familial Adenomatous Polyposis.

Journal of pediatric genetics
2017

Reconstruction of an abdominal wall defect with biologic mesh after resection of a desmoid tumor in a patient with a Gardner's syndrome.

Acta chirurgica Belgica
2017

Orthokeratinized Odontogenic Cyst with an Associated Keratocystic Odontogenic Tumor Component and Ghost Cell Keratinization and Calcifications in a Patient with Gardner Syndrome.

Head and neck pathology
2016

Gardner Syndrome With Unusual Maxillofacial Manifestation.

The Journal of craniofacial surgery
2016

Intestinal perforation during chemotherapeutic treatment of intra-abdominal desmoid tumor in patients with Gardner's syndrome: report of two cases.

World journal of surgical oncology
2016

The cutaneous manifestations of gastrointestinal malignancy.

Seminars in oncology
2016

Ectopic craniopharyngioma of the fourth ventricle in a patient with Gardner syndrome.

Clinical imaging
2016

Headache and Multiple Osteomas.

JAMA otolaryngology-- head & neck surgery
2016

Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies.

Gene
2016

Gardner Fibroma: Clinical and Histopathologic Implications of Germline APC Mutation Association.

Journal of pediatric hematology/oncology
2015

Supernumerary Teeth: Case Comparison and Review of the Literature.

The Journal of the Michigan Dental Association
2015

The frequency of non-syndromic distomolar teeth in a Greek population sample?

Journal of clinical and experimental dentistry
2015

Giant mediastinal thymolipoma in a patient with Gardner's syndrome.

Thoracic cancer
2015

Rare case of intraintestinal stromal tumors in the patient with familial adenomatous polyposis.

Experimental oncology
2016

Renographic Demonstration of Desmoid Tumor-Ureteral Fistula.

Clinical nuclear medicine
2016

Total gastroduodenectomy with pancreatic preservation for the treatment of Gardner's syndrome with gastroduodenal polyposis and malignant transformation.

Cirugia espanola
2016

Gardner's Syndrome revisited: a clinical case and overview of the literature.

Journal of orthodontics
2015

A Rare Case of Aggressive Fibromatosis Infiltrating Dorsal Muscles in a 6-Year-Old Patient - CT, MRI and Elastography Evaluation.

Polish journal of radiology
2015

Adenomas of the common bile duct in familial adenomatous polyposis.

World journal of gastroenterology
2014

[Gastric cancer arising from gastric polyps in gardner syndrome - a case report].

Gan to kagaku ryoho. Cancer & chemotherapy
Ver todos os 195 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome Gardner

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

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.

  1. Gardner syndrome initially misdiagnosed as bilateral breast malignancy: a case report and literature review.
    Frontiers in oncology· 2026· PMID 41768262mais citado
  2. Oral and Maxillofacial Manifestations of Gardner Syndrome: A Literature Analysis.
    The Journal of craniofacial surgery· 2026· PMID 40623139mais citado
  3. Peripheral nerve sheath tumors in the head and neck in patients with APC gene deletion mutations: a case report and scoping review of the literature.
    Clinical and experimental pediatrics· 2025· PMID 39810508mais citado
  4. Familial adenomatous polyposis family with clustering of psychiatric disorders.
    Japanese journal of clinical oncology· 2025· PMID 39756803mais citado
  5. Peripheral Osteoma of the Maxillary Sinus in a Patient Planned for Sinus Augmentation.
    Cureus· 2025· PMID 41170224mais citado
  6. Diagnostic and Treatment Protocols for Peripheral Craniofacial Osteomas.
    J Craniofac Surg· 2026· PMID 41911949recente
  7. A new ultrasonographic pattern of infundibular cysts associated with Gardner syndrome.
    Dermatol Online J· 2025· PMID 41725490recente
  8. Functional shoulder girdle reconstruction in paediatric desmoid tumour.
    J Surg Case Rep· 2025· PMID 41132622recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79665(Orphanet)
  2. MONDO:0019336(MONDO)
  3. GARD:6482(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Artigo Wikipedia(Wikipedia)
  6. Q1702335(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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Síndrome Gardner
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Síndrome Gardner

ORPHA:79665 · MONDO:0019336
CID-11
Ensaios
1 ativos
MedGen
UMLS
C0017097
EuropePMC
Wikidata
Wikipedia
Papers 10a
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