Raras
Buscar doenças, sintomas, genes...
Síndrome de costelas finas-ossos tubulares-dismorfia
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Esta é uma lista de doenças que começam com a letra "T".

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
2
pacientes catalogados
Início
Neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.5
🇧🇷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?
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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
3 sintomas
🧠
Neurológico
1 sintomas
😀
Face
1 sintomas
📏
Crescimento
1 sintomas
👂
Ouvidos
1 sintomas

+ 1 sintomas em outras categorias

Características mais comuns

90%prev.
Anormalidade da morfologia óssea da cintura pélvica
Muito frequente (99-80%)
90%prev.
Macrocefalia
Muito frequente (99-80%)
90%prev.
Morfologia anormal do palato
Muito frequente (99-80%)
90%prev.
Bossas frontais
Muito frequente (99-80%)
90%prev.
Osso longo delgado
Muito frequente (99-80%)
90%prev.
Morfologia anormal da costela
Muito frequente (99-80%)
8sintomas
Muito frequente (8)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 8 características clínicas mais associadas, ordenadas por frequência.

Anormalidade da morfologia óssea da cintura pélvicaAbnormality of pelvic girdle bone morphology
Muito frequente (99-80%)90%
MacrocefaliaMacrocephaly
Muito frequente (99-80%)90%
Morfologia anormal do palatoAbnormal palate morphology
Muito frequente (99-80%)90%
Bossas frontaisFrontal bossing
Muito frequente (99-80%)90%
Osso longo delgadoSlender long bone
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa2
Últimos 10 anos200publicações
Pico2025153 papers
Linha do tempo
2024Hoje · 2026📈 2025Ano de pico
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

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

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 — Síndrome de costelas finas-ossos tubulares-dismorfia

🗺️

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

Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results.

European journal of human genetics : EJHG2026 Mar 18

"Alport spectrum disorder" describes a phenotypically and genotypically multifaceted disease entity encompassing classic autosomal recessive and X-linked Alport syndrome (AS) but also more heterogenous and typically milder, yet not benign, hematuric phenotypes like autosomal dominant AS, formerly also known as thin basement membrane nephropathy (TBMN). Alport spectrum disorder is associated with disease-causing variants in the type IV collagen genes COL4A3, COL4A4 and COL4A5. Variants and genotypes, reported by a genetic diagnostics lab between 2009 and 2014, of 91 index cases with the clinical tentative diagnosis of AS (66/91), TBMN (21/91), or AS/TBMN (not specified further; 4/91), were reassessed based on 2015 ACMG (American College of Medical Genetics and Genomics) criteria and current amendments. 80 different variants, all originally reported as "mutations", and their genotypes have been reassessed (COL4A3: 21/80, COL4A4: 15/80, COL4A5: 44/80). In 10/80 variants, classification changed from disease-causing to variant of uncertain significance (VUS). 69/91 (76%) index cases included in the analysis could be classified as solved. 22/91 (24%) index cases had an ambiguous result either on variant, genotype, or both variant and genotype level. VUS cases had a significantly more limited phenotype (e.g., isolated microscopic hematuria) compared to non-downgraded cases (e.g., additional extrarenal manifestations). Reassessment of variants/genotypes in this study showed a significant reduction in unequivocal genetic diagnoses highlighting variant and genotype interpretation as a dynamic process. Genetic reports of individuals with suspected Alport spectrum disorder, especially those obtained in the pre-ACMG criteria era, should therefore be critically evaluated.

#2

A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.

BMC neurology2026 Jan 27

Rauch-Steindl syndrome (RSS) is a very rare autosomal dominant disorder caused by pathogenic variants in the NSD2 gene, characterized by dysmorphic facial features, prenatal and postnatal growth retardation, and variable developmental delay. We report the case of a 16-month-old Han Chinese girl who presented with typical features of RSS, including prenatal and postnatal growth failure, low body mass index, global developmental delay, expressive language impairment, infantile feeding difficulties, and distinctive dysmorphic facies (triangular face, broad forehead, high anterior hairline, deep-set eyes, full cheeks, thin and high nasal bridge, thick lower lip vermilion). She also exhibited mildly increased muscular tone in the lower limbs, transient recurrent respiratory infections, and a persistent atrial septal defect (ASD). Whole-exome sequencing identified a novel de novo heterozygous nonsense variant, NSD2 (NM_001042424.3): c.1466 C > G (p.Ser489Ter), in exon 6 on chromosome 4, which was classified as pathogenic according to ACMG guidelines. Notably, the patient exhibited an ASD that persisted through follow-up beyond 31 months of age, a feature not previously documented in RSS. Thus, we report a novel pathogenic NSD2 variant alongside the presence of ASD in this individual, a feature not previously documented in RSS.

#3

Hybrid endometrial-derived hydrogel and human endometrial organoids synergize for uterine regeneration in an immunocompetent murine model.

Stem cell research &amp; therapy2026 Jan 13

The human endometrium is a regenerative tissue essential for fertility, but pathological conditions like Asherman syndrome, endometrial atrophy, and thin endometrium can impair its function. Current therapies lack efficacy, driving demand for innovative regenerative therapies. In this context, endometrial-derived hydrogels and organoids have shown promise individually for tissue regeneration, but their combined therapeutic potential has not been previously evaluated in vivo. This study explores a dual regenerative strategy combining a hybrid hydrogel - composed of synthetic PuraMatrix® and endometrial extracellular matrix hydrogel - with human endometrial organoids in an immunocompetent murine model with uterine damage. Endometrial damage model was established in female C57BL/6 mice (n = 46) via uterine injury using 70° ethanol. After 4 days of endometrial damage, human endometrial organoids were co-injected with the hybrid hydrogel into the uterine horns. Two weeks post-injection, a subset of mice (n = 25) was sacrificed for biocompatibility, histological, and transcriptomic analyses. Functional recovery of the endometrium was assessed in the remaining animals (n = 21) through fertility outcome evaluation. For endometrial regeneration analyses, normally distributed data were analyzed by one-way ANOVA and Tukey's multiple comparisons, while non-normally distributed data were analyzed by the Kruskal-Wallis test with Dunn's multiple comparisons. For fertility outcomes, t-test or Mann-Whitney U tests for 2-by-2 comparisons were performed. Histological and molecular analyses revealed that the therapy improved endometrial thickness, gland density, and vascularization, and reduced fibrosis and ferroptosis, aligning tissue characteristics closer to healthy controls. However, fertility outcomes were not fully restored, potentially due to the persistence of the synthetic component of the hybrid hydrogel. Thus, further studies are needed to confirm complete hydrogel resorption and its impact on fertility restoration. In conclusion, this study demonstrates the biocompatibility and regenerative potential of human endometrial organoids delivered within the hybrid hydrogel, highlighting a promising strategy for endometrial regeneration.

#4

Abluminus DES+ sirolimus-eluting stent versus everolimus-eluting stent in patients with diabetes and coronary artery disease (ABILITY Diabetes Global): results from a multicentre, randomised controlled trial.

Lancet (London, England)2026 Jan 17

In patients with coronary artery disease, diabetes increases the risk of restenosis and adverse cardiovascular events after percutaneous coronary intervention (PCI). The Abluminus DES+ is a thin-strut cobalt-chromium sirolimus-eluting stent (SES) with abluminal and balloon-surface coating intended to enhance drug delivery to the vessel wall. We aimed to compare the efficacy and safety of the Abluminus DES+ SES versus the XIENCE durable-polymer everolimus-eluting stent (EES) in patients with diabetes undergoing PCI. ABILITY Diabetes Global was a multicentre, prospective, open-label, randomised controlled trial conducted at 74 sites in 16 countries. Adults (aged ≥18 years) with type 1 or type 2 diabetes undergoing PCI for at least one de novo coronary lesion due to chronic coronary syndrome or non-ST-elevation acute coronary syndrome were eligible. Patients were randomly assigned (1:1) to the Abluminus DES+ SES or the XIENCE EES. Randomisation was stratified by site using a secure web-based system with concealed allocation and randomly varying block sizes (4, 6, and 8). Operators were unmasked to allocation; staff performing clinical follow-up and the independent clinical events committee were masked. For the Abluminus DES+ SES, a balloon inflation time of at least 45 s was recommended to facilitate drug transfer; dual antiplatelet therapy was prescribed to all patients according to clinical guidelines and local practice. The primary hypothesis of the study was the non-inferiority of the Abluminus DES+ SES compared with the XIENCE EES for the two coprimary endpoints at 12 months (in the per-protocol population): ischaemia-driven target-lesion revascularisation (2·8% non-inferiority margin) and target-lesion failure (3·0% margin), defined as a composite of cardiovascular death, target-vessel myocardial infarction, or ischaemia-driven target-lesion revascularisation. Time-to-event analyses were conducted with Kaplan-Meier estimates and Cox proportional hazards models. This trial is registered with ClinicalTrials.gov (NCT04236609) and is complete. Between June 12, 2020, and Sept 9, 2022, 3032 patients were randomly assigned to the Abluminus DES+ SES (n=1514) or XIENCE EES (n=1518). 2931 (96·7%) of 3032 patients completed follow-up to death or 24-month follow-up. Median age was 68·0 years (IQR 60-74). 879 (29·0%) of 3032 patients were female and 2153 (71·0%) were male. At 12 months, in the per-protocol analysis, the Abluminus DES+ SES did not meet the criteria for non-inferiority for ischaemia-driven target-lesion revascularisation compared with XIENCE EES (67 of 1421 patients [Kaplan-Meier estimate 4·8%, 95% CI 3·9-6·2] vs 30 of 1446 [2·1%, 95% CI 1·6-3·2]; absolute risk difference 2·7%, 95% CI 1·3-4·1; pnon-inferiority=0·44) and target lesion failure (137 [9·7%, 8·4-11·5] vs 89 [6·2%, 5·3-7·8]; 3·5%, 1·5-5·5; pnon-inferiority=0·68). For both endpoints, the lower bound of the 95% CI for the absolute risk difference excluded zero. Target-vessel myocardial infarction occurred more frequently in the Abluminus DES+ SES group (73 of 1421 patients [Kaplan-Meier estimate 5·2%, 95% CI 4·1-6·5] vs 44 of 1446 patients [3·1%, 2·4-4·3]) but there were no significant differences in cardiovascular death (41 of 1421 patients [2·9%, 2·1-3·9] vs 30 of 1446 patients [2·1%, 1·5-3·0]) and all-cause death (52 of 1421 patients [3·7%, 2·8-4·8] vs 48 of 1446 patients [3·3%, 2·5-4·4]). Results were consistent at 24 months in the intention-to-treat analysis, however no significant differences were observed between the two groups in landmark analyses between 12 and 24 months. In patients with diabetes undergoing PCI, the Abluminus DES+ SES was not non-inferior to the XIENCE EES, resulting in higher rates of ischaemia-driven target-lesion revascularisation and target lesion failure at 12-month follow-up. Event rates between 12 and 24 months were similar between groups. These findings highlight the persistent challenge of optimising outcomes in patients with diabetes and underscore the need for continued innovation in stent design and adjunctive pharmacotherapy to reduce residual ischaemic risk in this population. Concept Medical.

#5

Effectiveness and feasibility of orogastric tube for surfactant delivery in moderate or very preterm neonates with respiratory distress syndrome: an open-label randomized controlled trial.

Journal of tropical pediatrics2026 Jan 02

To assess the feasibility and effectiveness of administering surfactant via an orogastric feeding tube used as a thin tracheal catheter, compared with the Intubation-Surfactant-Extubation (InSurE) method, in preterm neonates with respiratory distress syndrome (RDS). This was hospital-based, randomized controlled trial. The intervention group (Group A) received surfactant via an orogastric tube with direct laryngoscopy while maintaining continuous positive airway pressure (CPAP) therapy. The control group (Group B) received surfactant using the standard InSurE technique. Data collected included demographic details, feasibility criteria, clinical condition, respiratory support requirements, complications, and final outcomes. Baseline characteristics were comparable between groups. All 120 infants in the intervention group received surfactant via the feeding tube successfully on the first attempt, with uninterrupted administration, no premedication, no conversions to intubation, no procedure-related bradycardia, desaturation, or apnea, and no significant regurgitation. The need for mechanical ventilation was significantly lower in the feeding-tube group compared with InSurE (22 vs. 35; P = .049, relative risk 0.74). The mean duration of oxygen therapy, hospital stay, rates of bronchopulmonary dysplasia (BPD), intraventricular hemorrhage (IVH) (grade II or higher), air leaks, sepsis, and mortality did not differ significantly between groups. Surfactant administration via an orogastric feeding tube inserted into the trachea is feasible, safe, and as effective as the InSurE method in preterm neonates of 28-34 weeks' gestation. This low-cost, universally available alternative has important implications for improving access to surfactant therapy in resource-limited settings of tropical low- and middle-income countries (LMICs).

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 199

2026

Localized Pulmonary Amyloidosis Associated With Sjögren's Syndrome, Coexisting Lymphoid Interstitial Pneumonia, and a Severe Double Aortic Lesion: A Case Report and Literature Review.

Cureus
2026

Prenatal Fentanyl Exposure Association With Characteristic Neonatal Anomalies.

Journal of addiction medicine
2026

Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results.

European journal of human genetics : EJHG
2026

Intracoronary Imaging for the Management of Vulnerable Plaques.

Journal of clinical medicine
2026

Perioperative Care of a Four-Year-Old Child With Teebi Hypertelorism Syndrome: A Rare Craniofacial Disorder.

Journal of medical cases
2026

Lipoprotein(a), Atherosclerotic Plaque Burden, and Long-term Cardiovascular Outcomes in Patients With Coronary Artery Disease.

European journal of preventive cardiology
2026

The Triad of Thin Body Habitus, Postprandial Symptoms, and Postural Relief: Clinical Clues to Superior Mesenteric Artery Syndrome.

European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery
2026

Absence of lumbosacral plexus abnormalities in preschool children with tethered cord syndrome: A multiparametric MRI study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

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

Neonatology
2026

Investigating the Toxicity and Biodistribution of Boron-loaded Liposomes in Canine and Feline Models.

Radiation research
2026

Cystic lung diseases in the daily routine: a comprehensive step-wise algorithm for the radiological diagnosis of cystic lung lesions and diffuse cystic lung diseases.

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin
2026

Coronary atherosclerotic plaque intervention with Tongxinluo capsule (TXL-CAP): a multicenter, randomized, double-blind and placebo-controlled study.

Signal transduction and targeted therapy
2026

Bone microarchitecture assessed by HR-pQCT in syndrome of inappropriate secretion of thyrotropin with thyrotoxicosis.

Archives of osteoporosis
2026

Radiomics dataset from chest CT of clinically healthy adults.

Data in brief
2026

Advancing in vitro vascular wall modelling using digital light processing to study hyperglycemia-driven cell changes.

Frontiers in bioengineering and biotechnology
2026

Endometrial Autologous Intrauterine Platelet-Rich Plasma (PRP) Instillation Treatment and Its Potential on In Vitro Fertilization (IVF): Narrative Review.

Cureus
2026

A Step-By-Step Description of the Hysteroscopic Injection of Platelet-Rich Plasma (PRP) Into the Endo-Myometrial Junction For Patients With Asherman's Syndrome.

Journal of minimally invasive gynecology
2026

Unveiling a New Link: Cholesterol Deficiency in Smith-Lemli-Opitz and Niemann-Pick C as a Driver of Ciliopathies.

American journal of medical genetics. Part A
2026

Computed Tomography Analysis of Craniofacial Features in Japanese Patients With Cleidocranial Dysplasia.

Congenital anomalies
2026

Intracoronary Cryotherapy for Vulnerable Plaque Stabilization.

Cardiology in review
2026

A case of prune belly syndrome with patent urachus: Pediatric surgical aspects of a rare case report.

Radiology case reports
2026

Clinical and Genetic Insights Into Isolated Proteinuria With CUBN Variants.

Kidney international reports
2026

Stem cell therapy in thin endometrium and Asherman's syndrome: a systematic review and meta-analysis.

European journal of obstetrics, gynecology, and reproductive biology
2026

Low-concentration cholesterol modification enhances Clematis filamentosa Dunn-derived extracellular vesicle-mediated macrophage polarization regulation for acute lung injury therapy.

RSC advances
2026

Maternal and Perinatal Outcome in Meconium-stained Amniotic Fluid: A Hospital-based Observational Study.

Annals of African medicine
2026

A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.

BMC neurology
2026

Tips of family history taking in diagnosing Alport syndrome: a report of six cases.

CEN case reports
2025

Pediatric Bullous Impetigo: A Case Report and Literature Review.

Cureus
2026

Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings.

Journal of medical genetics
2026

Alport Syndrome is a Partial Tubulointerstitial Disease of the Kidney.

Kidney international reports
2026

Hybrid endometrial-derived hydrogel and human endometrial organoids synergize for uterine regeneration in an immunocompetent murine model.

Stem cell research &amp; therapy
2026

Abluminus DES+ sirolimus-eluting stent versus everolimus-eluting stent in patients with diabetes and coronary artery disease (ABILITY Diabetes Global): results from a multicentre, randomised controlled trial.

Lancet (London, England)
2026

Circulating Testican-2 and MGT5A are Markers of Membranous Nephropathy.

Kidney international reports
2025

A Systematic Review on Caesarean Niche and Postmenstrual Spotting Syndrome: The Scar That Speaks.

Cureus
2026

Surgical approach to ocular complications of Marfan syndrome.

Current opinion in ophthalmology
2026

Effectiveness and feasibility of orogastric tube for surfactant delivery in moderate or very preterm neonates with respiratory distress syndrome: an open-label randomized controlled trial.

Journal of tropical pediatrics
2026

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

American journal of human genetics
2025

A de novo variant of the COL3A1 gene: causality of vascular Ehlers-Danlos syndrome.

Advances in laboratory medicine
2026

Children's Experiences of Communication in Everyday Life Following Posterior Fossa Tumour Surgery-A Sense of Belonging While Navigating Reality.

International journal of language &amp; communication disorders
2025

Low invasive surfactant administration by videolaringoscopy: a feasibility study.

Italian journal of pediatrics
2025

Case Report: Application of combined transplantation of multiple autologous flaps in preventing empty pelvis syndrome after radical surgery for isolated sacrococcygeal recurrence of anal canal squamous.

Frontiers in surgery
2025

P23 Scurvy presenting as an unusual petechial rash in a patient with anorexia nervosa.

The British journal of dermatology
2025

Mesenchymal stem cell therapy for endometrial injury: a meta-analysis of preclinical studies.

BMC women's health
2025

Transmitter and ion channel profiles of saccadic omnipause neurons and cholinergic non-omnipause neurons in human nucleus raphe interpositus.

Frontiers in neuroanatomy
2025

Complicated Superior Mesenteric Artery Syndrome.

Cureus
2025

Electron Microscopy in Renal Biopsy Interpretation: When and Why It Still Matters.

Cureus
2025

Dental and Craniofacial Findings in Early Childhood in Oral-Facial-Digital Syndrome Type 1: A Case Report.

Case reports in dentistry
2025

The saline-immersion/irrigation technique (SITE) for colonic endoscopic submucosal dissection (ESD): A comprehensive evaluation of outcomes, efficacy, and safety.

Saudi journal of gastroenterology : official journal of the Saudi Gastroenterology Association
2025

Nd: YAG laser in the treatment of non-melanoma and melanoma skin cancers.

Lasers in medical science
2025

Fourth Nerve Palsy After Hair Replacement Surgery and Prolonged Vertical Position in a Patient With Mega-Cisterna-Magna: Report of a Case.

Cureus
2025

Case Report: A novel TTN gene variant and a concurrent rare COL4A4 gene variant in a Chinese patient with dilated cardiomyopathy.

Frontiers in cardiovascular medicine
2025

Birt-Hogg-Dube syndrome: A case report and case study of primary spontaneous pneumothorax caused by folliculin gene mutation.

Medicine
2025

Chitosan-Coated Liposomes for Intranasal Delivery of Ghrelin: Enhancing Bioavailability to the Central Nervous System.

Pharmaceutics
2025

Prognostic Role and Therapeutic Implications of Intravascular Optical Coherence Tomography Detected Coronary Plaque Microstructures in Patients with Coronary Artery Disease.

Journal of clinical medicine
2025

Clear Cell Papulosis Associated With Multiple Developmental Abnormalities of the Skin.

Cureus
2025

Liver Histomorphological Changes in First- and Second-Generation Rat Offspring Associated With Maternal Undernutrition.

Canadian journal of gastroenterology &amp; hepatology
2025

Ascending Vertical Vein Aneurysm.

Methodist DeBakey cardiovascular journal
2025

Colostrum from MERS-CoV seropositive camels for MERS prophylaxis and SARS-CoV-2 infection, a placebo controlled randomized trial.

Scientific reports
2025

Evaluation of the Mid and Lower Face in Three Females With Myhre Syndrome: Objective Methods to Supplement Subjective Assessment.

American journal of medical genetics. Part C, Seminars in medical genetics
2026

9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

American journal of medical genetics. Part A
2025

[ZHAO Hong's experience in treatment of gynecological diseases based on spleen-stomach theories].

Zhongguo zhen jiu = Chinese acupuncture &amp; moxibustion
2025

Nivolumab-induced subacute cutaneous lupus erythematosus in a patient with sigmoid colon cancer: a case report and review of the literature.

Frontiers in oncology
2025

Effects of Gegen-Heisu Decoction on Endometrial Receptivity in Patients with Thin Endometrium-Related Infertility: A Prospective Randomized Controlled Trial.

Journal of integrative and complementary medicine
2025

Procedural success and safety of a standardized less invasive surfactant administration protocol using fentanyl premedication and video laryngoscopy in preterm infants <32 weeks' gestation.

Frontiers in pediatrics
2026

Astrocytic Chromatin Remodeler ATRX Gates Hippocampal Memory Consolidation Through Metabolic and Synaptic Regulation.

Glia
2025

Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an ANKRD11 Gene Variant.

Molecular syndromology
2025

Linking Systemic Inflammation to Coronary Lesion Complexity: A Combined FFR and OCT Study.

International journal of molecular sciences
2025

Radiological Prevalence of Superior Semicircular Canal Dehiscence with Ultra-High-Resolution Photon-Counting Detector CT.

Clinical neuroradiology
2025

Endocrine and regenerative mechanisms of adipose-derived stem cells in female infertility.

Frontiers in endocrinology
2025

Bilateral Optic Disc Coloboma with Coexisting Unilateral Retinochoroidal Coloboma in an Adolescent from Northwestern Nigeria: A Case Report.

Nigerian medical journal : journal of the Nigeria Medical Association
2026

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)-A Novel Cause of Premature Ovarian Insufficiency.

Clinical genetics
2025

Clinical practice perspectives on adipose-derived stem cells and platelet-rich plasma for female infertility treatments.

Future science OA
2025

Platelet-Rich Plasma in Reproductive Endocrinology: Mechanisms and Clinical Applications for Ovarian Reserve, PCOS, and Endometrial Receptivity.

Biomedicines
2025

Cardiac Arrhythmias and Sleep Disorders.

Sleep medicine clinics
2025

Implications of computed tomography reconstruction algorithms on coronary atheroma composition: A head-to-head comparison with multimodality near-infrared spectroscopy intravascular ultrasound imaging.

Journal of cardiovascular computed tomography
2025

Utility of Long Radial Artery Sheaths for Left Heart Catheterization.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2025

Less Invasive Surfactant Administration: A Quality Improvement Project.

MCN. The American journal of maternal child nursing
2025

Growth Hormone Therapy Restores Fertility in a Woman With Isolated Growth Hormone Deficiency From Chronic Sheehan Syndrome.

JCEM case reports
2025

Cardiovascular phenotype analysis in large and abnormal offspring calves in relation to assisted reproductive technology†.

Biology of reproduction
2025

An Elusive Diagnosis of Autosomal Dominant Alport Syndrome: Genomic Sequencing Is a Game Changer.

Cureus
2025

Intracoronary OCT findings and outcomes in Wellens' syndrome: a case-control study.

Archivos de cardiologia de Mexico
2025

Relationship Between COVID-19 and Retinal Vein Occlusions.

Journal of ophthalmology
2025

Polycystic Ovary Syndrome: Unraveling the Minor Shifts in Fatty Acid Composition of Follicular Fluid Phospholipids and Triglycerides.

Reproductive sciences (Thousand Oaks, Calif.)
2025

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

American journal of human genetics
2025

Unraveling Delayed Puberty: A Rare Case of Congenital Hypogonadotropic Hypogonadism Masked by Celiac Disease and Plummer-Vinson Syndrome.

Clinical case reports
2026

A novel, thin-needle knife with high-pressure waterjet for colorectal underwater endoscopic submucosal dissection (with video).

Gastrointestinal endoscopy
2025

Artri King induced Cushing syndrome in an 82-year-old man.

Dermatology online journal
2026

Prophylactic surfactant therapy in the era of less invasive surfactant delivery.

Journal of perinatology : official journal of the California Perinatal Association
2025

Reconstruction of endometrial histoarchitecture and receptivity genes in Asherman's syndrome patients using a 3D acellular amnion bilayer scaffold seeded with endometrial cells.

Reproduction, fertility, and development
2026

Plaque fissure and calcified nodule: histopathological findings.

European heart journal
2025

ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape.

European journal of medical genetics
2025

Plant Regeneration Trait Syndromes, Tradeoffs, and Linkages to Adult Abundance for Native and Exotic Grassland Plants.

Ecology and evolution
2025

MRI-negative cerebellar syndrome caused by medication-induced magnesium deficiency: a case report.

BMC neurology
2025

Combination of Si@UiO-66-NH2 paper-based thin film microextraction with direct solid-state spectrofluorimetry for extraction and determination of estradiol in urine.

Analytica chimica acta
2025

A Case of CHARGE Syndrome with a Novel Intronic Variant in the CHD7 Gene.

Journal of clinical research in pediatric endocrinology
2025

Genetic variations in zona pellucida glycoproteins: Implications for fertility and ART outcomes.

Mutation research. Reviews in mutation research
2025

Pathogenic synonymous variation of the COL4A3 gene causing Alport syndrome comorbid with IgA deposition in a toddler: a case report.

BMC nephrology
2025

Adverse cardiovascular events in coronary Plaques not undeRgoing pErcutaneous coronary intervention evaluateD with optIcal Coherence Tomography. The PREDICT-AI risk model.

Open heart
2025

A systematic review and exploration of clinical application of liver depression syndrome in breast cancer.

Frontiers in oncology
2025

Comparative Analysis of Orbital Morphology Accuracy in 3D Models Based on Cone-Beam and Fan-Beam Computed Tomography Scans for Reconstructive Planning.

Journal of clinical medicine
2025

Impact of microplastics on the human gut microbiome: a systematic review of microbial composition, diversity, and metabolic disruptions.

BMC gastroenterology
2025

Nephrotic-range proteinuria in a 53-year-old female with thin basement membrane nephropathy: A case report with literature review.

SAGE open medical case reports
2025

Honeycomb or Lotus Root-Like Intracoronary Pattern: Insights From Optical Coherence Tomography of a Recanalized Thrombus.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2025

Clinical and Trichoscopy Features in Trichorhinophalangeal Syndrome: A Multicenter Retrospective Study.

Dermatology practical &amp; conceptual
2025

Resection of multiple intramedullary spinal cord cavernous malformations in infancy: illustrative case.

Journal of neurosurgery. Case lessons
2025

Preventive Percutaneous Intervention of Vulnerable Coronary Plaques.

The American journal of cardiology
2025

Sustained long-term benefits of autologous subconjunctival platelet-rich plasma injections for severe dry eye disease.

Regenerative medicine
2025

Live birth following multimodal therapy in a patient with asherman's syndrome, recurrent pregnancy loss, and polycystic ovarian syndrome: a case report and literature review.

Contraception and reproductive medicine
2025

Clinical and genetic characteristics associated with dual-positive gene variations.

Frontiers in neuroscience
2025

Comparison of interobserver and Intraobserver reliability of alpha angle measurements using different types of circles for femoroacetabular impingement syndrome.

Journal of hip preservation surgery
2025

Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.

Journal of nephrology
2025

[Two cases of skeletal ciliopathies in one family].

Zeitschrift fur Geburtshilfe und Neonatologie
2025

Treatment of PDGFRB -Related Penttinen Syndrome With Imatinib in a Young Child.

American journal of medical genetics. Part C, Seminars in medical genetics
2025

Comparison of Minimally Invasive Surfactant Therapy and Intubation-surfactant Administration-extubation in Premature Neonates with Respiratory Distress Syndrome.

Oman medical journal
2025

Spontaneous Improvement of Hypogonadotropic Hypogonadism in a Patient with PCSK1 and HS6ST1 Mutations: A Case Report.

Life (Basel, Switzerland)
2025

Effect of Supplementation of Antioxidant Lipids Synthetized by Enzymatic Acidolysis with EPA/DHA Concentrate and Maqui (Aristotelia chilensis (Mol.) Stuntz) Seed Oil for Mitigating High-Fat Diet-Induced Obesity and Metabolic Disorders in Mice.

Antioxidants (Basel, Switzerland)
2025

A 261 kb deletion spanning three genes is causing Rubinstein-Taybi syndrome type 1 in a 6-year-old boy belonging to Kashmir valley, India.

Gene
2025

Brittle Cornea Syndrome Type 1 in Siblings: Severe Presentation in One and Misdiagnosis as Primary Congenital Glaucoma in the Other.

Cornea
2025

Minimally Invasive, Bioadaptive Multimodal Sensor Probe with Safe Deployment for Real-Time Acute Compartment Syndrome Diagnosis.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

A case of nevoid basal cell carcinoma syndrome associated with optic nerve coloboma and epiretinal membrane.

BMC ophthalmology
2025

Meralgia Paresthetica in Children: Case Series and Surgical Technique.

Journal of pediatric orthopedics
2025

Adrenal gland volume measurement could assist surgery option in patients with primary pigmented nodular adrenocortical disease.

Surgery
2025

The relationships between inflammatory biomarkers, plaque characteristics, and macrophage clusters in coronary plaque: a quantitative assessment of macrophages based on optical coherence tomography.

Frontiers in cardiovascular medicine
2025

Plaque Vulnerability and Cardiovascular Risk Factor Burden in Acute Coronary Syndrome: An Optical Coherence Tomography Analysis.

Journal of the American College of Cardiology
2025

The Effect of Lipoprotein(a) Levels on Non-Culprit Atherosclerosis in Patients With Acute Coronary Syndrome Who Underwent Percutaneous Coronary Intervention: An Optical Coherence Tomography Study.

Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography &amp; Interventions
2026

Combined Alport Syndrome Type 3A and Mitochondrial Disease Presenting with a Thin Base Membrane and Overt Albuminuria.

Internal medicine (Tokyo, Japan)
2025

Impact of pubic cut position on pubic root displacement in periacetabular osteotomy : a 3D CT simulation study.

Bone &amp; joint open
2025

Computed Tomography Advancements in Plaque Analysis: From Histology to Comprehensive Plaque Burden Assessment.

Echocardiography (Mount Kisco, N.Y.)
2025

Congenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for GLIS3 deletion: case report and review of literature.

Ophthalmic genetics
2025

Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases.

The American journal of case reports
2025

Recurrent Spontaneous Pneumothorax as a Manifestation of the Birt-Hogg-Dubé Syndrome: A Case Report.

Cureus
2025

Type 1 laryngeal clefts - Which patients can be managed medically? A retrospective cohort study.

International journal of pediatric otorhinolaryngology
2025

First in-human results of the MAGiC robotic magnetic navigation radiofrequency ablation catheter.

Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing
2025

[Semicircular canal dehiscence syndrome].

Radiologie (Heidelberg, Germany)
2025

Median Arcuate Ligament Syndrome: A Rare Differential Diagnosis of Chronic Abdominal Pain.

Cureus
2025

Pituitary Stalk Interruption Syndrome: A Case Series.

Cureus
2025

[Clinical and genetic investigation of 4 children with microdeletion KBG syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2025

Endometrial Organoids and Their Role in Modeling Human Infertility.

Cells
2025

Organ Donation in Marfan Syndrome: Is It a Case to Stretch Boundaries?

Cureus
2025

Diagnostic value of tongue manifestations for primary Sjögren's syndrome: construction and validation of disease screening model.

Frontiers in medicine
2025

Clinical and genetic analysis of ulnar-mammary syndrome caused by a novel TBX3 mutation in a Chinese boy.

Intractable &amp; rare diseases research
2025

Metastatic Breast Cancer to a Dedifferentiated Solitary Fibrous Tumor Arising from a PTEN Hamartoma of Soft Tissue.

International journal of surgical pathology
2025

Liposomal encapsulation of Chenopodium berlandieri extracts rich in oleanolic acid: improved bioactivities targeting metabolic syndrome prevention.

Food &amp; function
2025

Inflammation mediates the relationship between cardiometabolic index and vulnerable plaque in patients with acute coronary syndrome.

Lipids in health and disease
2025

A rare combination of hypogonadotropic hypogonadism, GH deficiency and rectal atresia in a female with an FGFR1 variant: a case report and systematic review of the literature.

Endocrine
2025

Age-Related Dysphagia Among Children with 22q11.2-Deletion Syndrome.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.

Journal of diabetes investigation
2025

Non-invasive respiratory support paired with minimally invasive surfactant therapy in preterm infants.

Seminars in perinatology
2025

Is it possible to separate the testicular and ovarian components of an ovotestis?

Journal of pediatric urology
2025

Feasibility of percutaneous coronary intervention using a 7-French thin-walled sheath via the distal radial access.

Scientific reports
2025

[Risk Factors for metabolic fatty liver disease with high suspicion of advanced fibrosis in lean patients attended at the Hospital Nacional Dos de Mayo, 2012-2022].

Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru
2025

hUC-MSCs loaded collagen scaffold for refractory thin endometrium caused by Asherman syndrome: a double-blind randomized controlled trial.

Stem cells translational medicine
2025

Peri-coronary adipose tissue attenuation and its association with plaque vulnerability and clinical outcomes in coronary artery disease using combined CCTA and OCT.

Scientific reports
2025

Less invasive surfactant administration for meconium aspiration syndrome.

BMJ paediatrics open
2025

Focusing on The Association Between Cavum Septum Pellucidum and/or Cavum Vergae and Clinical Symptoms and Drug Therapy in Patients with Schizophrenia.

Alpha psychiatry
2025

Management of Coronary Vulnerable Plaques: A Focus on Preventive Percutaneous Coronary Intervention.

Reviews in cardiovascular medicine
2025

Neuroprotective effect of chicoric acid-loaded liposome nanoparticles against AlCl3-induced neurotoxicity in rats: Insights into the role of AMPK/AKT/Nrf-2 signaling pathway.

Neurotoxicology
2025

Stem cells and female reproduction: endometrial physiology, disease and therapy.

Stem cells (Dayton, Ohio)
2025

Primary ciliary dyskinesia cases bronchoscopic sampling and TEM analysis: sampling & diagnosis in PCD.

Ultrastructural pathology
2025

Predictors and Mechanisms of Nonculprit Plaque Progression in Patients With Acute Coronary Syndromes: An In-Vivo Serial Optical Coherence Tomography Study.

The American journal of cardiology
2025

Two cases of Kallmann syndrome caused by a novel mutation in ANOS1: A case report.

Medicine
2025

A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years.

American journal of medical genetics. Part A
2025

A Comparative Study of the Effectiveness of Surfactant Administration by a Less Invasive Surfactant Administration With Intubation-Surfactant-Extubation Method in Premature Infants With RDS: A Clinical Trial Study.

The Journal of perinatal &amp; neonatal nursing
2025

A comparative study of different types of connective tissue-associated interstitial lung disease.

BMC medical imaging
2025

Comparison of retinal structure and schisis location in X-linked retinoschisis and enhanced S-cone syndrome.

Retina (Philadelphia, Pa.)
2025

A New Case with Weaver Syndrome: Delineating Natural Course and Growth Pattern, Further Clarifying Clinical Phenotype.

Molecular syndromology
2025

Spontaneous Pneumothorax Diagnosed As Birt-Hogg-Dubé Syndrome: A Report of a Rare Case.

Cureus
2025

All-cause healthcare resource utilization and costs among community-managed adults with long-COVID in France, 2020-2023.

Journal of medical economics
2025

Exploring acupuncture as a therapeutic approach for tic disorders: a review of current understanding and potential benefits.

Frontiers in neurology
2025

First report of molecular detection of chicken astrovirus (CAstV) in chicks affected with enteric disease in Ecuador through a fast RT-qPCR assay based on SYBR® Green.

BMC veterinary research
2025

Two Cases of Late Diagnosis Pituitary Stalk Interruption Syndrome and Literature Review.

International medical case reports journal
2025

KMT2D Regulates Tooth Enamel Development.

Journal of dental research
2025

AI-driven framework to map the brain metabolome in three dimensions.

Nature metabolism
2025

Perspectives in the Diagnosis, Clinical Impact, and Management of the Vulnerable Plaque.

Journal of clinical medicine
2025

Multiple pathological bone fractures in a dog with adrenal-dependent Cushing's syndrome.

The Journal of small animal practice
2025

Promising protective treatment potential of endophytic bacterium Rhizobium aegyptiacum for ulcerative colitis in rats.

Journal of Zhejiang University. Science. B
2025

Diagnostic Performance of Dermoscopy for Distinguishing Early Melanomas and Intermediate Melanocytic Lesions From Low-Grade Dysplastic Nevi.

Journal of cutaneous medicine and surgery
2025

Thin Skin in Cushing's Syndrome.

The New England journal of medicine
2025

Evolution of coronary stents: innovations, antithrombotic strategies and future directions.

Heart (British Cardiac Society)
2025

Minimal Change Podocytopathy with Coexistent Thin Glomerular Basement Membrane following Exposure to Semaglutide.

Glomerular diseases
2025

Achieved levels of apolipoprotein B and plaque composition after acute coronary syndromes: Insights from HUYGENS.

Atherosclerosis
2025

Vulnerable or High-Risk Plaque: A JACC: Cardiovascular Imaging Position Statement.

JACC. Cardiovascular imaging
2025

Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1: An Italian Cohort Study.

Genes
2025

Beyond the Lumen: Molecular Imaging to Unmask Vulnerable Coronary Plaques.

Journal of cardiovascular development and disease
2026

Management of Compression Neuropathies Associated With Vascular Malformations.

Hand (New York, N.Y.)
2025

Acupuncture for neonatal abstinence syndrome in newborn infants.

The Cochrane database of systematic reviews
2025

A Clinical Trial to Determine the Impact of Tumor Size, Histological Subtype, and Vitamin D Status on the Therapeutic Response of Basal Cell Carcinoma to Photodynamic Therapy.

medRxiv : the preprint server for health sciences
2025

The Natural Course of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

Clinical genetics
2025

Clinical and genetic analysis of a female child with duplications at 7p22.3p22.1 and Xp22.31p21.1: A case report.

Medicine
2025

Brain Magnetic Resonance Imaging Findings of Shiga Toxin-producing Escherichia coli Hemolytic Uremic Syndrome-associated Encephalopathy.

JMA journal
2025

A Novel Truncating Variant in Sandestig-Stefanova Syndrome with Hydrocephalus.

Molecular syndromology
2024

SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review.

Frontiers in pediatrics
2025

Pituitary Stalk Interruption Syndrome: A Case and Literature Review.

AACE clinical case reports
2025

Identification of a Novel ATP7A Variant in a Chinese Boy With Developmental Delay and Epilepsy.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2025

[Investigation of Molecular Differences in Plasmodium spp. Isolates Obtained from Malaria Patients].

Mikrobiyoloji bulteni
2024

Temporary Global Amnesia With Insular Infarction in a Young Female: A Case Report.

Cureus
2025

Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families.

Neurogenetics
2024

Shunt Dependency Syndrome Combined with Sinus Stenosis after Cyst-peritoneal Shunting of Arachnoid Cyst: A 20-year Rare Complication.

NMC case report journal
2025

Histopathology of the tongue in a hamster model of COVID-19.

BMC oral health

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Doenças relacionadas

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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.

  1. Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results.
    European journal of human genetics : EJHG· 2026· PMID 41851263mais citado
  2. A novel NSD2 pathogenic variant in a Chinese patient with Rauch-Steindl syndrome: a case report.
    BMC neurology· 2026· PMID 41593547mais citado
  3. Hybrid endometrial-derived hydrogel and human endometrial organoids synergize for uterine regeneration in an immunocompetent murine model.
    Stem cell research &amp; therapy· 2026· PMID 41526996mais citado
  4. Abluminus DES+ sirolimus-eluting stent versus everolimus-eluting stent in patients with diabetes and coronary artery disease (ABILITY Diabetes Global): results from a multicentre, randomised controlled trial.
    Lancet (London, England)· 2026· PMID 41520674mais citado
  5. Effectiveness and feasibility of orogastric tube for surfactant delivery in moderate or very preterm neonates with respiratory distress syndrome: an open-label randomized controlled trial.
    Journal of tropical pediatrics· 2026· PMID 41481356mais citado
  6. Biallelic TTBK1 variant causes a severe syndromic neurodevelopmental disorder: clinical and genetic insights from two siblings.
    J Med Genet· 2026· PMID 41545183recente
  7. De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.
    Am J Hum Genet· 2026· PMID 41468891recente
  8. [Semicircular canal dehiscence syndrome].
    Radiologie (Heidelb)· 2025· PMID 40548971recente
  9. A New Approach in Management of Orbital Adherence Syndrome.
    J Craniofac Surg· 2024· PMID 38809031recente
  10. Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.
    Int J Dev Neurosci· 2024· PMID 38010976recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1506(Orphanet)
  2. MONDO:0015462(MONDO)
  3. GARD:18727(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55785488(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

Síndrome de costelas finas-ossos tubulares-dismorfia
Compêndio · Raras BR

Síndrome de costelas finas-ossos tubulares-dismorfia

ORPHA:1506 · MONDO:0015462
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
CID-10
Q87.5 · Outras síndromes com malformações congênitas com outras alterações do esqueleto
CID-11
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2931543
Wikidata
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