Raras
Buscar doenças, sintomas, genes...
Nanismo osteoglofônico
ORPHA:2645CID-10 · Q87.1CID-11 · LD24.2YOMIM 166250DOENÇA RARA

Distúrbio esquelético raro caracterizado por nanismo, anomalias craniofaciais graves e múltiplos dentes não irrompidos.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Distúrbio esquelético raro caracterizado por nanismo, anomalias craniofaciais graves e múltiplos dentes não irrompidos.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
7
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.1
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
17 sintomas
😀
Face
12 sintomas
🦷
Dentes
4 sintomas
📏
Crescimento
3 sintomas
👂
Ouvidos
2 sintomas
🫃
Digestivo
2 sintomas

+ 28 sintomas em outras categorias

Características mais comuns

100%prev.
Achatamento malar
Frequência: 5/5
100%prev.
Craniossinostose
Muito frequente (99-80%)
100%prev.
Baixa estatura grave
Muito frequente (99-80%)
90%prev.
Agenesia dentária
Muito frequente (99-80%)
90%prev.
Múltiplos dentes não irrompidos
Muito frequente (99-80%)
90%prev.
Forma anormal dos corpos vertebrais
Muito frequente (99-80%)
71sintomas
Muito frequente (8)
Frequente (20)
Ocasional (12)
Sem dados (31)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 71 características clínicas mais associadas, ordenadas por frequência.

Achatamento malarMalar flattening
Frequência: 5/5100%
CraniossinostoseCraniosynostosis
Muito frequente (99-80%)100%
Baixa estatura graveSevere short stature
Muito frequente (99-80%)100%
Agenesia dentáriaTooth agenesis
Muito frequente (99-80%)90%
Múltiplos dentes não irrompidosMultiple unerupted teeth
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026189 papers
Linha do tempo
2026Hoje · 2026
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

FGFR1Fibroblast growth factor receptor 1Disease-causing germline mutation(s) (gain of function) inAltamente restrito
FUNÇÃO

Tyrosine-protein kinase that acts as a cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of embryonic development, cell proliferation, differentiation and migration. Required for normal mesoderm patterning and correct axial organization during embryonic development, normal skeletogenesis and normal development of the gonadotropin-releasing hormone (GnRH) neuronal system. Phosphorylates PLCG1, FRS2, GAB1 and SHB. Ligand binding leads to the activati

LOCALIZAÇÃO

Cell membraneNucleusCytoplasm, cytosolCytoplasmic vesicle

VIAS BIOLÓGICAS (2)
Epithelial-Mesenchymal Transition (EMT) during gastrulationFormation of paraxial mesoderm
MECANISMO DE DOENÇA

Pfeiffer syndrome

A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known: mild autosomal dominant form (type 1); cloverleaf skull, elbow ankylosis, early death, sporadic (type 2); craniosynostosis, early demise, sporadic (type 3).

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
144.8 TPM
Ovário
142.9 TPM
Artéria tibial
134.1 TPM
Fallopian Tube
122.3 TPM
Cérebro - Hemisfério cerebelar
122.0 TPM
OUTRAS DOENÇAS (20)
Hartsfield-Bixler-Demyer syndromeencephalocraniocutaneous lipomatosisosteoglophonic dysplasiaPfeiffer syndrome
HGNC:3688UniProt:P11362

Variantes genéticas (ClinVar)

468 variantes patogênicas registradas no ClinVar.

🧬 FGFR1: NM_023110.3(FGFR1):c.2156T>C (p.Met719Thr) ()
🧬 FGFR1: NM_023110.3(FGFR1):c.570del (p.Trp190fs) ()
🧬 FGFR1: NM_023110.3(FGFR1):c.74del (p.Pro25fs) ()
🧬 FGFR1: NM_023110.3(FGFR1):c.494del (p.Leu165fs) ()
🧬 FGFR1: NM_023110.3(FGFR1):c.831dup (p.Lys278Ter) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Nanismo osteoglofônico

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

p63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials.

Cell death discovery2026 Mar 24

As a pivotal member of the p53 family, the p63 gene plays an indispensable role in skin homeostasis and development. The gene encodes multiple isoforms, primarily TAp63 and ΔNp63, which differentially regulate cell proliferation, differentiation, and stress responses through complementary mechanisms. This comprehensive review systematically examines the molecular mechanisms and cellular functions of p63 in cutaneous biology, with particular emphasis on its dual roles in maintaining skin integrity and contributing to disease pathogenesis. We detail the essential functions of p63 in skin development, encompassing epithelial fate determination, chromatin remodeling, cell adhesion, and barrier formation, while also exploring its involvement in skin regeneration and differentiation via metabolic reprogramming and stem cell modulation. Furthermore, we analyze how mutations in p63 underlie ectodermal dysplasia and various dermatological disorders, underscoring the gene's fundamental importance in cutaneous health. By integrating current knowledge of the diverse biological roles of p63 and its associated therapeutic potential as a target, this review highlights its central significance in both skin physiology and pathology.

#2

Survival After Pancreatic Resection for Intraductal Papillary Mucinous Neoplasm: Supporting Selective Surgery.

United European gastroenterology journal2026 Apr

Resection of intraductal papillary mucinous neoplasm (IPMN) aims to prevent progression to invasive pancreatic cancer. However, the risks of pancreatic surgery and frequent findings of low-grade dysplasia (LGD) raise concerns about overtreatment. This EAHPBA-endorsed multinational study evaluated short- and long-term overall survival (OS) following preventive resection for IPMN (without pre-operative signs of cancer). Adult patients with resected IPMN showing LGD, high grade dysplasia (HGD) or T1-staged invasive carcinoma from 2008-2023 were identified from the OPTIMAL-IPMN database. Estimated OS rates at one, five and 10 years in patients undergoing preventive pancreatic resection were assessed using Kaplan-Meier analyses and predictors for mortality were evaluated using parametric survival regressions. Among 2275 patients in the OPTIMAL-IPMN database, 1728 (77%) had undergone preventive pancreatic resection for IPMN. Of those were 61% resected without prior surveillance. Final pathology revealed LGD in 63%, HGD in 27% and T1a-c-staged invasive cancer in 10% (7.3% T1a-b, 2.8% T1c). Estimated 1-year OS rate was 97%. Estimated 5-year OS rates (landmark analysis at 1 year) for LGD, HGD, T1a-b, and T1c was 97%, 99%, 96% and 91% respectively. Independent predictors for long-term mortality included age ≥ 75 versus < 75 years (HR 1.97) and T1c versus LGD (HR 8.12). This multinational study confirms excellent survival after preventive IPMN resection but reveals many upfront resections yielding LGD with unknown survival benefit. Future studies should aim to determine which patients can be followed safely with monitoring to avoid unnecessary immediate resection.

#3

Modulation of Alveolar Macrophages by Sex as a Biological Variable.

American journal of physiology. Lung cellular and molecular physiology2026 Mar 24

Background: Alveolar macrophages (AMs) play a key role in the innate immune system and the pathogenesis of bronchopulmonary dysplasia (BPD), a condition with a significant sex bias. However, the influence of biological sex on AM immunometabolism remains poorly defined. Objective: We tested the hypothesis that female AMs would exhibit greater metabolic resilience (less impact on their mitochondrial function) compared to male AMs upon exposure to hyperoxia. Methods: We characterized bioenergetic profiles of male (MH-S) and female (AMJ2-C11) adult murine AM cell lines and primary neonatal AMs from C57BL/6 pups. Oxygen consumption (OCR) and extracellular acidification rates (ECAR) were quantified using Seahorse extracellular flux analysis at baseline and following 48 hours of hyperoxia (85% O2). Results: Adult female AMs displayed an elevated basal and maximal respiration compared to males. Upon exposure to hyperoxia, female AMs showed decreased maximal OCR and spare respiratory capacity. Conversely, male AMs showed little change in oxidative phosphorylation. Uniquely, neonatal AMs of both sexes show a suppression in their mitochondrial function upon exposure to hyperoxia, but the decline is more significant in the male macrophages. In addition, the neonatal female macrophages also showed a higher glycolytic reserve compared to their baseline in room air, upon exposure to hyperoxia. Conclusions: Biological sex and developmental stage are fundamental determinants of AM bioenergetics. These intrinsic sex-specific mechanisms may underlie differential susceptibility to neonatal lung injury, underscoring the necessity of sex-specific therapeutic strategies.

#4

Dysbiotic microbiota trigger colitis-associated colorectal cancer and imprint a distinctive bile acid profile in a PSC-IBD model.

Gut2026 Mar 23

Primary sclerosing cholangitis-associated UC (PSC-UC) carries excess colorectal neoplasia despite often mild-appearing endoscopy, implicating persistent microscopic inflammation and microbiota-bile acid (BA) dysfunction. To test whether PSC-UC neoplasia is driven by transferable microbiota-mediated inflammation linked to secondary BA loss. Surveillance colonoscopies (2012-2022) from PSC-UC (n=251) and UC-only (n=8839) were compared for segmental endoscopic/histological activity and dysplasia. We generated multidrug resistance protein 2 (MDR2)-/- × interleukin (IL)-10-/- double-knockout (DKO) mice and used germ-free (GF) derivation, faecal microbiota transplantation (FMT), antibiotic conditioning and cohousing with shotgun metagenomics and liquid chromatography-tandem mass spectrometry BA profiling. PSC-UC showed greater inflammatory activity and a right-shifted dysplasia burden versus UC-only. Under specific-pathogen-free conditions, DKO mice developed early right-predominant colitis and multifocal dysplasia progressing with age. DKO communities were depleted of 7α-dehydroxylation capacity with near absence of deoxycholic and lithocholic acids and no enrichment of canonical bacterial genotoxins. GF DKO mice were protected, whereas live DKO donor FMT reinstated severe colitis and dysplasia; sterile-filtered stool supernatant was inactive. IL-10-/- donor FMT or cohousing attenuated colitis and increased recipient secondary BA, whereas wild-type/MDR2-/- donor transfers were non-colitogenic. In GF DKO mice, direct deoxycholic acid repletion caused hepatotoxicity. PSC-UC neoplasia associates with transmissible microbiota-dependent inflammation and secondary BA deficiency. Controlled restoration of BA-transforming microbial functions, rather than indiscriminate secondary BA replacement, is a rational translational direction.

#5

Total biopsy via endoscopic submucosal dissection is useful for the diagnosis of neoplastic lesions in patients with ulcerative colitis.

European journal of gastroenterology &amp; hepatology2026 Feb 26

Ulcerative colitis-associated neoplasia (UCAN) and sporadic neoplasia require different treatment strategies; their differential diagnosis is based on endoscopic findings and biopsy results. However, accurate diagnosis is sometimes difficult. Similarly, it is often challenging to evaluate invasion depth. Recently, their diagnosis has become possible pathologically, following endoscopic UCAN resection. This study investigated whether endoscopic submucosal dissection (ESD) is useful as a treatment or diagnostic (total biopsy) modality for neoplastic lesions within the inflammatory region in patients with ulcerative colitis. We retrospectively reviewed the characteristics, accuracy of endoscopic diagnosis, results of ESD, adverse events, and changes in therapeutic strategy after ESD for 27 neoplastic lesions (15 UCANs and 12 sporadic neoplasias) occurring within the inflammatory region of ulcerative colitis in patients at our institution between January 2016 and September 2023. UCANs had significantly more non-polypoid morphology (P = 0.037) and inflammation around the neoplasia (P = 0.010). The diagnostic accuracy for low-grade dysplasia was higher in sporadic neoplasias than in UCANs. ESD results (en bloc resection/R0 resection) were similar between UCANs (100%/86.7%) and sporadic neoplasias (91.7%/83.3%). The incidence of intraoperative perforation and delayed bleeding was comparable. In eight lesions (29.6%), accurate pathological diagnosis via ESD prompted changes in the pre-ESD treatment strategy. Notably, surgical resection was avoided in three lesions (11.1%), including one UCAN lesion reclassified from high-grade dysplasia to low-grade dysplasia and two sporadic neoplasia lesions initially diagnosed as UCANs. ESD results of patients with ulcerative colitis were acceptable. ESD may be a useful modality for optimal treatment planning.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Fibrous dysplasia of the jaws: four cases with conservative and resective surgical management.

Case reports in plastic surgery &amp; hand surgery
2026

A Case of Restrictive Dermopathy With Atypical Cardiac Anomalies and a Novel ZMPSTE24 Variant.

American journal of medical genetics. Part A
2026

Discovery and validation of biomarkers for Epstein-Barr virus associated gastric cancer.

Acta biochimica et biophysica Sinica
2026

COBT: a gene-based rare variant burden test for case-only study designs using aggregated genotypes from public reference cohorts.

Genome medicine
2026

Clinical and molecular landscape of skeletal ciliopathies across prenatal and pediatric cohorts with assessment of oxidative stress markers.

Pediatric research
2026

p63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials.

Cell death discovery
2026

Assessing the feasibility of neonatal chest MRI for bronchopulmonary dysplasia using a standard 1.5-Tesla scanner.

European radiology
2026

Survival After Pancreatic Resection for Intraductal Papillary Mucinous Neoplasm: Supporting Selective Surgery.

United European gastroenterology journal
2026

Modulation of Alveolar Macrophages by Sex as a Biological Variable.

American journal of physiology. Lung cellular and molecular physiology
2026

Dysplasia in inflammatory bowel disease pseudopolyps.

Journal of Crohn's &amp; colitis
2026

Clinical and genetic basis of congenital gonadotropin deficiency.

Human reproduction open
2026

Multistage orthodontic-implantology-prosthetic treatment of a patient diagnosed with hypohidrosis ectodermal dysplasia syndrome with EDAR mutation: a case report.

BMC oral health
2026

Habitual patellar dislocation in extension in children with immature epiphysis: a report of three cases.

BMC musculoskeletal disorders
2026

Dysbiotic microbiota trigger colitis-associated colorectal cancer and imprint a distinctive bile acid profile in a PSC-IBD model.

Gut
2026

Total biopsy via endoscopic submucosal dissection is useful for the diagnosis of neoplastic lesions in patients with ulcerative colitis.

European journal of gastroenterology &amp; hepatology
2026

Villous Adenoma of the Renal Pelvis: Clinicopathologic Spectrum and Diagnostic Considerations.

International journal of surgical pathology
2026

Hip Dislocation With Femoral Short Neck in Spondyloepiphyseal Dysplasia Treated by Open Reduction and Valgus Osteotomy: A Case Report.

Cureus
2026

Preoperative Considerations for Uterine Fibroid Removal in Patients With Mayer-Rokitansky-Küster-Hauser Syndrome and Klippel-Feil Syndrome: A Case Report.

Cureus
2026

Type I Thanatophoric Dysplasia: Clinical Outcome in the Absence of Molecular Genetic Confirmation: A Case Report.

Cureus
2026

Combined Pericapsular Nerve Group (PENG) and Ilioinguinal-Iliohypogastric Blocks for Pediatric Pelvic Osteotomy: A Tailored Regional Anesthesia Approach.

Cureus
2026

What is the role of diuretics in the prevention and management of bronchopulmonary dysplasia?

Current treatment options in pediatrics
2026

Gaps in the diagnosis of small bowel adenocarcinoma among patients with Crohn's disease: a tertiary care perspective.

Annals of gastroenterology
2026

Preoperative Prediction of Subtype and Artificial Intelligence-Driven Endomicroscopy Detection of Advanced Neoplasia in Intraductal Papillary Mucinous Neoplasms.

Techniques and innovations in gastrointestinal endoscopy
2026

The Clinical Utility of Whole-Exome Sequencing in the Prenatal Diagnosis of Fetal Skeletal Dysplasia.

International journal of women's health
2026

Tranexamic acid reduces blood loss and transfusion in single-stage bilateral combined surgery for developmental dysplasia of the hip: A retrospective study.

Journal of children's orthopaedics
2026

Overcoming Complexity: Percutaneous Embolization for Hepatic Artery Pseudoaneurysms in Hereditary Hemorrhagic Telangiectasia (HHT).

The Indian journal of radiology &amp; imaging
2026

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.

medRxiv : the preprint server for health sciences
2026

A clinical review of cervical cancer.

Nursing
2026

Maternal hypertension and survival without bronchopulmonary dysplasia in preterm infants: a meta-analysis of cohort studies.

The journal of maternal-fetal &amp; 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
2026

[Correlation study of blood lipid indexes and body mass index with clinical characteristics of cervical squamous cell carcinoma].

Zhonghua fu chan ke za zhi
2026

The Frequency of Dysplasia in Ultra-Short versus Conventional Barrett's Esophagus.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2026

Evaluation of Lung Disease in Adults with Osteogenesis Imperfecta: A Cross-Sectional, Multi-Center Study.

Chest
2026

Coordinating Tracheostomy and Gastrostomy in Infants with Bronchopulmonary Dysplasia.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
2026

The pathogenic ADAMTSL2 D167N variant causes geleophysic dysplasia-like connective tissue changes in mice.

The American journal of pathology
2026

Genome‑Wide Association Studies (GWAS) in 2026: from gene hunting to biological discovery in endocrine and cardiometabolic diseases.

Annales d'endocrinologie
2026

Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: a retrospective study of a French cohort.

Annales d'endocrinologie
2026

Quantifying the Increased Risk of Atopic Disorders in Patients with Ectodermal Dysplasias: A Nationwide Registry-based Study.

Journal of the American Academy of Dermatology
2026

MRI-based Quantification of Ossification Centers in the Human Fetal Atlas and Axis Vertebrae.

Current medical imaging
2026

CX3CL1/CX3CR1 axis dysregulation contributes to epileptogenic mechanisms in focal cortical dysplasia.

Acta neuropathologica communications
2026

Letter regarding Pini, A., Nardini, P., Zizi, V., Molino, M., Calvani, M., Carrozzo, F., … Filippi, L. (2026). β3-adrenoceptor agonism exerts lung protection in a rat model of bronchopulmonary dysplasia. Br J Pharmacol, in press.

British journal of pharmacology
2026

A potential impact of Helicobacter pylori-related metabolic syndrome on the course of high-grade dysplasia in Barrett's esophagus.

Gastrointestinal endoscopy
2026

The 10- to 23-Year Outcomes of Cemented Total Hip Arthroplasty Utilizing Impaction Bone Grafting for Severe Acetabular Bone Defects in Osteoarthritis and Rheumatoid Arthritis.

The Journal of arthroplasty
2026

Independent evaluation of deep learning models for detecting focal cortical dysplasia.

Epilepsy research
2026

Patent Ductus Arteriosus Persistence and Neurodevelopmental Outcomes: A Restrictive Treatment Approach Does Not Compromise Neurological Development.

Acta paediatrica (Oslo, Norway : 1992)
2026

Reliable classification of polyps based on artificial intelligence: a development and validation study.

EClinicalMedicine
2026

Cannabis-Associated Spontaneous Coronary Artery Dissection in a Community Hospital: A Case-Based Focused Literature Review.

Cureus
2026

Trends in Survival and Short-Term Outcomes Among Preterm Infants Less Than 32 Weeks From 2016 to 2022: A Retrospective Cohort Study at a Tertiary Medical Center in the UAE.

Cureus
2026

Integrated Multi-Omics Profiling Identifies CD84-Associated Microglial Alterations in Focal Cortical Dysplasia Type II.

Journal of inflammation research
2025

Meckel-Gruber syndrome: a rare and fatal congenital disorder (case report).

The Pan African medical journal
2026

Equivalent outcomes without increased morbidity in MPFL reconstruction and distalising tibial tubercle osteotomy versus isolated MPFL reconstruction.

Journal of orthopaedics
2026

Longitudinal data analysis of lung aeration and gas exchange trajectories in bronchopulmonary dysplasia: the devil is in the details-authors' reply.

The Lancet regional health. Europe
2026

Gallbladder osseous metaplasia mimicking a focal lesion on ultrasound: a case report of a rare benign condition.

Journal of surgical case reports
2026

Management of severe dysplastic nevus (high-grade dysplasia): Italian recommendations for good clinical practice.

Dermatology reports
2026

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.

Clinical genetics
2026

Efficacy of Denosumab for Treatment of Pain in Fibrous Dysplasia and McCune-Albright Syndrome: A Systematic Review.

Clinical endocrinology
2026

From general to precision rehabilitation: a systematic review of VMO-Targeted versus general quadriceps strengthening in patellofemoral dysplasia.

BMC musculoskeletal disorders
2026

Correlation of Granzyme B-Positive Immune Cell Infiltrate with Histological Severity in Oral Potentially Malignant and Malignant Lesions: A Pilot Immunohistochemical Study.

Journal of stomatology, oral and maxillofacial surgery
2026

Impact of a Structured Brain Care Bundle on Severe Germinal Matrix Hemorrhage-Intraventricular Hemorrhage in Very Preterm Neonates: A Retrospective Cohort Study.

Pediatric neurology
2026

Robotic-Assisted Total Hip Arthroplasty in Combined Short Stature and Crowe-IV Developmental Hip Dysplasia: A Case Report.

JBJS case connector
2026

Unexpected Postoperative Paralysis After Periacetabular Osteotomy Due to Functional Neurological Disorder: A Case Report.

JBJS case connector
2026

Neonatal brain abnormalities predict preschool executive functioning performance in children born very preterm.

Developmental psychology
2026

Respiratory Outcomes in Infants and Children With Bronchopulmonary Dysplasia Living in Rural Areas.

Pediatric pulmonology
2026

Deviation From AI-Predicted Implant Sizes in Total Hip Arthroplasty Is Associated With Increased Complication Risk.

Arthroplasty today
2026

Co-occurring DMD, GJA1, and novel FYCO1 variants in a proband from a consanguineous oculodentodigital dysplasia family: a rare multi-locus case report.

Frontiers in genetics
2026

Retrospective Study of Fibro-Osseous Lesions of the Oral and Maxillofacial Region: Clinical, Radiological, and Pathological Diagnosis.

Journal of pharmacy &amp; bioallied sciences
2026

Cervical spinal melorheostosis causing myelopathy: a rare case and review of the literature.

Journal of surgical case reports
2026

Management of pregnancy in a woman with a new diagnosis of pycnodysostosis: A case report.

Case reports in women's health
2026

Clinical, Histopathological and Epidemiological Features of Dorsal Melanotrichia of Poodles and Poodle Crosses.

Veterinary dermatology
2026

Rebalancing the Neurovascular Axis: NTRK2 Isoform Equilibrium as a Determinant of Pulmonary Endothelial Regeneration.

Cell proliferation
2026

Paeonol Ameliorates Gastric Mucosal Enterosis and Dysplasia Associated with Chronic Atrophic Gastritis by Modulating the JAK2/STAT3 Pathway.

Molecular and cellular biology
2026

Proliferative verrucous leukoplakia management requires x-ray surveillance. A retrospective study of 78 cases.

Clinical oral investigations
2026

A Twist1-regulated distal enhancer crucial for Alx1 gene expression and function during craniofacial development.

Developmental biology
2026

Should exome sequencing Replace Chromosomal Microarray Analysis in Suspected Skeletal Dysplasias? Lessons from a Case of Osteogenesis Imperfecta.

Fetal diagnosis and therapy
2026

Elevated Driving Pressure in Pressure-Controlled Ventilation: An Independent Risk Factor for Adverse Outcomes in Mechanically Ventilated Neonates.

Lung
2026

Learning curves and training thresholds for paediatricians performing neonatal hip ultrasound using the Graf method in a universal screening program.

European journal of pediatrics
2026

Patellar Instability: A Narrative Review with an Integrated Treatment Algorithm.

Orthopedic research and reviews
2026

Combining cryopreserved autografts and vascularized bone flap for craniofacial defect reconstruction in fibrous dysplasia: a case report.

International journal of surgery case reports
2026

Can We Reduce Ports While Preserving Outcomes? A Case Series of 3-Port Laparoscopic Right Hemicolectomy with Intracorporeal Anastomosis.

The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology
2026

Autoimmune Gastritis Associated With a Gastric Hyperplastic Polyp: Two Case Reports and Review of its Neoplastic Potential.

The Korean journal of helicobacter and upper gastrointestinal research
2026

Clinical utility of oral cytology for detecting oral epithelial dysplasia or worse: A diagnostic meta-analysis.

Cancer cytopathology
2026

Probiotic Lactobacillus rhamnosus mitigates PBC-like features in Mcpip1-deficient mice via modulation of gut-liver crosstalk.

Biochimica et biophysica acta. Molecular basis of disease
2026

Integrated Clinical, Histopathological, and Inflammatory Parameters for Predicting Malignant Transformation in High-Risk Oral Potentially Malignant Disorders: A Prospective Study.

Head and neck pathology
2026

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2026

High prevalence of silent aneurysms and fibromuscular dysplasia in spontaneous coronary artery dissection survivors: analysis of the SCAD-POL Registry.

Polish archives of internal medicine
2025

[Low levels of vitamin D at one month of age and its association with bronchopulmonary dysplasia in premature newborns under 32 weeks and/or under 1500 g].

Andes pediatrica : revista Chilena de pediatria
2026

Prostate Cancer Leading Skull Metastasis With Papilledema.

The Journal of craniofacial surgery
2025

[Developmental dysplasia of the hip: Role of pelvic radiograph in patients with normal ultrasonography].

Andes pediatrica : revista Chilena de pediatria
2025

Fluorescence Mueller matrix imaging of the stromal region in unstained cervical tissue sections: quantitative categorization of CIN grades.

Applied optics
2026

The role of gender in patients with developmental dysplasia of the hip treated with closed reduction and spica cast immobilization: does it affect prognosis?

Journal of pediatric orthopedics. Part B
2026

Cytological versus histological results in ASCUS cervical dysplasia - a retrospective study.

Ceska gynekologie
2026

Development of an interdisciplinary tool to assess severe BPD phase of illness and application evaluating impact of tracheostomy.

Journal of perinatology : official journal of the California Perinatal Association
2026

Cervical Cancer Screening.

American family physician
2026

Considerations and Challenges in Open Reduction With Ligamentum Teres Reconstruction for Paediatric Developmental Dysplasia of the Hip.

Journal of pediatric orthopedics
2026

Tönnis Grade 1 Is Associated With Higher Total Hip Arthroplasty Conversion Than Tönnis Grade 0 at 10-Year Follow-Up After Hip Arthroscopy for Femoroacetabular Impingement Syndrome: A Propensity-Matched Cohort Analysis.

Arthroscopy : the journal of arthroscopic &amp; related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association
2026

Aorto-Renal Dysplasia in Childhood: The Overlap of Neurofibromatosis Type 1 and Pediatric Renovascular Hypertension.

Current hypertension reports
2026

Offering a Potential Route to Better Neonatal ICU to PICU Transitions.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies
2026

Analysis of CCN6 in the Context of Human Health and Disease: Current Insights and Unexplored Frontiers.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

The saline-immersion/irrigation technique for endoscopic submucosal dissection of a challenging colonic lesion using double-balloon endoscopy and a novel type of advanced imaging.

VideoGIE : an official video journal of the American Society for Gastrointestinal Endoscopy
2026

A >30-cm circumferential rectal laterally spreading tumor treated with multitunnel endoscopic submucosal dissection and suturing.

VideoGIE : an official video journal of the American Society for Gastrointestinal Endoscopy
2026

Saline-tunneling endoscopic submucosal dissection for residual rectal lesion at anastomotic staple line.

VideoGIE : an official video journal of the American Society for Gastrointestinal Endoscopy
2026

Short stature with windswept deformity in a young girl.

JCEM case reports
2026

Two secondary aneurysmal bone cysts associated with mandibular fibrous dysplasia: a rare case and literature review.

International journal of surgery case reports
2026

Ilizarov correction of extreme anterior tibial bowing (≈100°) secondary to fibrous dysplasia: a case report from Afghanistan.

International journal of surgery case reports
2026

Management of proximal femoral focal deficiency with limited resources amid war in a child with multiple skeletal deformities: a case report.

International journal of surgery case reports
2026

Muscle and physical functions after one-stage total hip arthroplasty with shortening subtrochanteric osteotomy in an old-old patient with bilateral Crowe IV developmental dysplasia dislocated into the gluteal muscles: a case report.

International journal of surgery case reports
2026

Mucinous cystic neoplasm of the liver with biliary communication: a great imitator, diagnostic dilemma and surgical challenge.

Journal of surgical case reports
2026

First reported case of developmental dysplasia of the hips in a child with 3M syndrome: a case report.

Journal of surgical case reports
2026

Low-grade mucinous neoplasm arising in a completely isolated duplication cyst of the abdominal wall: a unique case report.

Journal of surgical case reports
2026

Detection of anal squamous dysplasia at routine colonoscopy in 121 patients: implications for anal cancer screening.

Proceedings (Baylor University. Medical Center)
2026

A Cemented Total Hip Arthroplasty Without Osteotomy for Severe Femoral Deformity in Fibrous Dysplasia: A Case Report.

Cureus
2026

Hidden morphological clues in deceptive bone marrow pathologies.

Annales de biologie clinique
2026

Immune Landscape Reveals Biomarkers for High-Risk Oral Tongue Dysplasia.

Journal of dental research
2026

Extracellular vesicle-mediated transcellular mitophagy as a modulatory target for moderate hyperoxia-induced alveolar developmental arrest in bronchopulmonary dysplasia.

Free radical biology &amp; medicine
2026

Localizing the epileptogenic zone using deep learning and neuroimaging: A systematic review.

Seizure
2026

Relationships between lung ultrasound, chest CT, and echocardiographic findings in children with bronchopulmonary dysplasia: A multimodal imaging study.

Respiratory medicine
2026

Bone matrix proteins: regulators of skeletal remodeling and repair.

Journal of bone and mineral metabolism
2026

Arterial spin labeling performs comparably to 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography for presurgical evaluation in pediatric lesional epilepsy.

Epilepsia
2026

Dysplasia in sessile serrated lesions: frequency, interobserver variability and added value of immunohistochemistry.

Histopathology
2026

AAV Gene Therapy for MPS IVA with Induction of Immune Tolerance via Oral Administration of Epitope Peptides of N-Acetylgalactosamine-6-sulfate Sulfatase.

International journal of molecular sciences
2026

Cervicovaginal Microbiome Signatures Across Cervical Disease States: A Prospective Cross-Sectional Analysis.

Diagnostics (Basel, Switzerland)
2026

Insights into Accelerated MRI Protocols for Pediatric Brain Assessment in Emergency Cases.

Diagnostics (Basel, Switzerland)
2026

Colitis-Associated Carcinoma: The Quintessential Epithelial Neoplasia Driven by Chronic Inflammation.

Cells
2026

Use of Aflibercept to Treat Retinopathy of Prematurity in Children with Extremely Low Birth Weight.

Journal of clinical medicine
2026

Single cell protein profiling of focal cortical dysplasia in a patient requiring multiple resections.

Acta neuropathologica communications
2026

Trajectory of lung ultrasound scores in preterm infants at risk for bronchopulmonary dysplasia.

Journal of perinatology : official journal of the California Perinatal Association
2026

Association between risk-adjusted mortality and severe morbidity in very low birth weight infants: a multicenter study from the NEOCOSUR network.

Journal of perinatology : official journal of the California Perinatal Association
2026

Health-Related Quality-of-Life and its Determinants After Acute Coronary Syndrome Caused by Spontaneous Coronary Artery Dissection.

Heart, lung &amp; circulation
2026

Advanced imaging (narrow band and acetic acid chromoendoscopy) and guided biopsies in surveillance of Barrett's oesophagus: a systematic review.

BMJ open gastroenterology
2026

Adherence to developmental dysplasia of the hip screening guidelines among French healthcare providers: a cross-sectional survey.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
2026

Enhancing human papillomavirus vaccination uptake after loop electrosurgical excision procedure (LEEP) at colposcopy: a quality improvement study.

Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC
2026

The impact of Assisted Reproductive Technology on the neonatal prognosis of newborns < 29 weeks gestational age: a retrospective case-control study.

Journal of gynecology obstetrics and human reproduction
2026

Comparison of Four Sedation and Anaesthesia Protocols during Stress Radiography of the Coxofemoral Joint Using a Distension Device Modified for Force Measurements.

Veterinary and comparative orthopaedics and traumatology : V.C.O.T
2026

Sex-Based Differences in Outcomes, Clinical Benefit, and Survivorship in Patients With Borderline Hip Dysplasia Undergoing Hip Arthroscopy at a Minimum 5-Year Follow-up: A Propensity-Matched Comparison Study.

The American journal of sports medicine
2026

A case of solitary bone plasmacytoma to multiple myeloma: a case report.

Frontiers in medicine
2025

Endometriosis presenting as a rectal stricture in a patient with ulcerative colitis and primary sclerosing cholangitis: a case report.

Frontiers in gastroenterology (Lausanne, Switzerland)
2025

Gastrointestinal endoscopy for intestinal dysplasia and neoplasia detection and management in Crohn's disease: when and how?

Frontiers in gastroenterology (Lausanne, Switzerland)
2026

Pathogenic SGMS2 variants are not a common cause of early-onset osteoporosis among Finnish patients.

Frontiers in endocrinology
2026

Left-sided gall bladder: From surprise to safe exit.

Journal of minimal access surgery
2026

Application of Cytokines in Cervical Secretion for High-grade Squamous Intraepithelial Lesion Caused by High-risk Human Papillomavirus Infection.

Biomedical and environmental sciences : BES
2026

Gene Panel Versus Whole Exome Sequencing for Fetal Anomalies.

Prenatal diagnosis
2026

Examining the role of biologic sex on kidney outcomes in preterm neonates: A secondary analysis of the PENUT/REPAIReD study.

Pediatric nephrology (Berlin, Germany)
2026

BPD-Neo: An MRI Dataset for Lung-Trachea Segmentation with Clinical Data for Neonatal Bronchopulmonary Dysplasia.

Scientific data
2026

Evaluation of the Overbite Depth Indicator and Anteroposterior Dysplasia Index in a Sample of the Arab Population.

The journal of contemporary dental practice
2026

Re-evaluating routinely collected clinical and laboratory parameters in the preoperative risk assessment of intraductal papillary mucinous neoplasms: model development and internal validation.

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]
2026

Omics approaches to bronchopulmonary dysplasia: a first step in the right direction?

Thorax
2026

Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.

Journal of medical genetics
2026

Acute myeloid leukaemia (AML) harbouring KMT2A-PTD: should it be considered as a myelodysplasia-related abnormality?

Journal of clinical pathology
2026

Bisphenol S exposure before sexual maturity impairs follicular development via Cathepsin L-mediated granulosa cell death.

Ecotoxicology and environmental safety
2026

Current status of early diagnosis of developmental dysplasia of the hip more than 10 years after program implementation: a multicenter study of cases diagnosed in 2023.

Orthopaedics &amp; traumatology, surgery &amp; research : OTSR
2026

Signet-ring Cell Pattern in Pancreatic Juice Cytology Indicates Intestinal-type Intraductal Papillary Mucinous Neoplasm with High-grade Dysplasia or Invasive Carcinoma.

Acta cytologica
2026

Artificial intelligence for diagnosis and triage in oral cancer: a clinician‑centered narrative review.

International journal of clinical oncology
2026

Cost-Effectiveness of Smoking Cessation Among Survivors of Cervical Intraepithelial Neoplasia or Cervical Cancer.

JAMA network open
2026

Proximal fragment perfusion following hip arthroplasty with subtrochanteric shortening osteotomy in cases with severe developmental dysplasia of the hip.

Turkish journal of medical sciences
2026

Ureteric squamous cell carcinoma in a duplex collecting system presenting with chronic obstructive uropathy: a rare case report.

International journal of surgery case reports
2026

The Impact of Hiatus Hernia Size on Dysplasia Progression in Patients With Barrett's Esophagus.

JGH open : an open access journal of gastroenterology and hepatology
2026

Bilateral Clubfoot in Nail-Patella Syndrome: A Rare Syndromic Case Successfully Treated with the Ponseti Method.

Journal of orthopaedic case reports
2026

Normal or Not? Acetabular Morphology Is Not a Binary Classification.

The Journal of the American Academy of Orthopaedic Surgeons
2026

Flavin adenine dinucleotide increases antioxidant availability and protects neonatal C57Bl6 lungs from high oxygen induced lung injury.

American journal of physiology. Cell physiology
2026

HPV, Cytology, and Cotest Cervical Cancer Screening and the Risk of Precancer.

JAMA network open
2025

[Clinical phenotype and genetic analysis of a fetus with abnormal development due to a rare paternal t(10;14)(p11.2;p11) translocation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

[Analysis of clinical features and genetic variants in a Chinese pedigree affected with Spondyloepiphyseal dysplasia type Ehlers-Danlos syndrome due to variants of B3GALT6 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

[Application of SNP linkage-based PGT-M to block the transmission of EFNB1 deletion in a Chinese family affected with Cranio-facial-nasal syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2026

Cardioacrofacial dysplasia 1: a case report and literature review.

Translational pediatrics
2025

Pediatric Hepatocyte Nuclear Factor 1B (HNF1B) Disease: Diabetes and Endocrine Manifestations.

Pediatric diabetes
2026

Endoscopic characterization and development of a prediction model for colorectal adenomatous polyps.

World journal of gastrointestinal surgery
2026

Prenatal Detection of Proximal Femoral Focal Deficiency (PFFD) in Limited Resource Setting: A Case Report.

International medical case reports journal
2026

Histopathological and Molecular Features of Adenomatous and Serrated Colon Adenomas, Characteristics and Overlapping Features, Challenges in the Nomenclature.

Turk patoloji dergisi
2026

[Coupled finite element analysis of the hip joint and spine in normal individuals and patients with developmental dysplasia of the hip].

Zhongguo gu shang = China journal of orthopaedics and traumatology
2026

Dissecting the differentiation origins of intestinal metaplasia and early intestinal-type gastric cancer in gastric antrum by single-cell RNA profiling.

NPJ precision oncology
2026

Immunological Biomarkers in Oral Leukoplakia According to Oral Intraepithelial Neoplasia (OIN) Classification: A Comparative Analysis of Salivary and Plasma Cytokines.

Journal of oral pathology &amp; medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
2026

Interpreting the emerging role of quantitative perfusion assessment after closed reduction in developmental dysplasia of the hip.

Skeletal radiology
2026

Gene-Environment Interaction in the Pathogenesis of Craniofacial Microsomia: A Narrative Review.

The Journal of craniofacial surgery
2026

Sleep magnetoencephalography enhances detection and source imaging of seizures and fast oscillations in focal cortical dysplasia.

Epilepsia
2026

Diagnostic reassessment in patients previously diagnosed with childhood-onset epilepsy during the transition to adult care: A retrospective cohort study in a tertiary epilepsy center.

Epilepsia open
2026

The Value of Cord Blood CXCL10 and MMP8 as Biomarkers in Predicting Bronchopulmonary Dysplasia- A Retrospective Cohort Study.

International journal of general medicine
2026

Impaired mitophagy contributes to osteogenesis and mineralization disorders in fibrous dysplasia.

Autophagy
2026

Analysis of factors associated with cervical cancer and precancerous lesions.

Scientific reports
2026

Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.

Nature communications
2026

Mitochondria-derived peptide MOTS-c alleviates hyperoxia-induced bronchopulmonary dysplasia in neonatal mice by activating Nrf2 pathway.

European journal of pharmacology
2026

European Consensus Guidelines on the Management of Respiratory Distress Syndrome - 2025.

Neonatology
2026

[Neurogenic hip dysplasia and hip dislocation : Pathophysiology, clinical presentation, and management in the context of cerebral palsy].

Orthopadie (Heidelberg, Germany)
2026

High-Frequency Oscillation vs Mechanical Ventilation for Neonatal Acute Respiratory Distress Syndrome: A Randomized Clinical Trial.

JAMA network open
2026

Marked regression of calcinosis with canakinumab in hyperphosphatemic familial tumoral calcinosis.

JBMR plus
2026

Current Trends and Future Directions in the Diagnosis and Management of Pediatric Orthopedic Disorders.

Cureus
2026

Prevalence, perinatal risk factors and clinical outcomes of respiratory Ureaplasma species colonization in hospitalized preterm infants.

Frontiers in pediatrics
2026

Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.

Frontiers in endocrinology
2026

A Novel Homozygous CUL7 Variant in an Iranian Patient Expands the Genetic Spectrum of 3 M Syndrome.

Clinical case reports
2026

Clinical evidence on a Coriolus versicolor-based vaginal gel for HPV-related cervical disease: a narrative review.

Chinese clinical oncology
2026

Deep-Intronic Variant in RUNX2 Causing Pseudo-Exon Inclusion in a Family With Cleidocranial Dysplasia.

Clinical genetics
2026

Physalin A interferes with cell cycle in human oral squamous carcinoma cells via DNA topoisomerase II/ATM/ATR/Chk signaling for G2/M phase arrest.

Archives of biochemistry and biophysics
2026

Progression of esophageal atresia associated Barrett's esophagus in adulthood - Is endoscopic surveillance worth it?

Journal of pediatric surgery
2026

A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.

Experimental dermatology
2026

Factors Associated With Oral Epithelial Dysplasia in Oral Potentially Malignant Disorders.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2026

Interleukin-27 promotes oral squamous cell carcinoma pathogenesis via FSIP1-mediated activation of the PI3K-Akt signaling pathway.

Biochimica et biophysica acta. General subjects
2026

Efficient self-supervised Barlow Twins from limited tissue slide cohorts for colonic pathology diagnostics.

Medical image analysis
2026

ECMO use in infants with bronchopulmonary dysplasia: a literature review.

Journal of perinatology : official journal of the California Perinatal Association
2026

Artificial intelligence assistance improves endoscopist accuracy for gastric cancer dysplasia and intestinal metaplasia.

Scientific reports
2026

Risk factors for recurrence of vulvar high-grade squamous intra-epithelial lesions: long-term follow-up of the PITVIN Study (primary imiquimod vs surgery for vulvar intra-epithelial neoplasia).

International journal of gynecological cancer : official journal of the International Gynecological Cancer Society

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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. p63 in skin homeostasis and disease: molecular mechanisms and therapeutic potentials.
    Cell death discovery· 2026· PMID 41876478mais citado
  2. Survival After Pancreatic Resection for Intraductal Papillary Mucinous Neoplasm: Supporting Selective Surgery.
    United European gastroenterology journal· 2026· PMID 41874453mais citado
  3. Modulation of Alveolar Macrophages by Sex as a Biological Variable.
    American journal of physiology. Lung cellular and molecular physiology· 2026· PMID 41874349mais citado
  4. Dysbiotic microbiota trigger colitis-associated colorectal cancer and imprint a distinctive bile acid profile in a PSC-IBD model.
    Gut· 2026· PMID 41871943mais citado
  5. Total biopsy via endoscopic submucosal dissection is useful for the diagnosis of neoplastic lesions in patients with ulcerative colitis.
    European journal of gastroenterology &amp; hepatology· 2026· PMID 41870950mais citado
  6. 6-minute walk test as a measure of disease progression and fatigability in a cohort of individuals with RYR1-related myopathies.
    Orphanet J Rare Dis· 2018· PMID 29970108recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:2645(Orphanet)
  2. OMIM OMIM:166250(OMIM)
  3. MONDO:0008150(MONDO)
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q55781317(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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Nanismo osteoglofônico

ORPHA:2645 · MONDO:0008150
Prevalência
<1 / 1 000 000
Casos
7 casos conhecidos
Herança
Autosomal dominant
CID-10
Q87.1 · Síndromes com malformações congênitas associadas predominantemente com nanismo
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0432283
Wikidata
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