Raras
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Síndrome de displasia epifisária-perda auditiva-dismorfia
ORPHA:1825CID-10 · Q87.0DOENÇA RARA

A Síndrome de Displasia Epifisária com Perda Auditiva e Dismorfismo é uma condição rara que causa múltiplas alterações congênitas (presentes desde o nascimento) e características físicas peculiares. Ela se manifesta por atraso no desenvolvimento, deficiência intelectual, baixa estatura, perda de audição (do tipo neurossensorial), traços faciais específicos (incluindo uma dobra de pele no canto interno dos olhos – epicanthus, ponte do nariz larga e rebaixada, ponta do nariz larga e carnuda, narinas levemente viradas para frente, sulcos profundos entre o nariz e a boca, e boca larga com lábio superior fino), e alterações nos ossos (como polegares mal posicionados, dedos curtos, escoliose e ossos do punho mal formados). Os pacientes também apresentam problemas comportamentais graves (como agressividade e hiperatividade), além de manchas claras na pele e padrões de impressões digitais subdesenvolvidos. Não houve mais descrições desta síndrome na literatura médica desde 1992.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A Síndrome de Displasia Epifisária com Perda Auditiva e Dismorfismo é uma condição rara que causa múltiplas alterações congênitas (presentes desde o nascimento) e características físicas peculiares. Ela se manifesta por atraso no desenvolvimento, deficiência intelectual, baixa estatura, perda de audição (do tipo neurossensorial), traços faciais específicos (incluindo uma dobra de pele no canto interno dos olhos – epicanthus, ponte do nariz larga e rebaixada, ponta do nariz larga e carnuda, narinas levemente viradas para frente, sulcos profundos entre o nariz e a boca, e boca larga com lábio superior fino), e alterações nos ossos (como polegares mal posicionados, dedos curtos, escoliose e ossos do punho mal formados). Os pacientes também apresentam problemas comportamentais graves (como agressividade e hiperatividade), além de manchas claras na pele e padrões de impressões digitais subdesenvolvidos. Não houve mais descrições desta síndrome na literatura médica desde 1992.

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: Q87.0
🇧🇷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
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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

😀
Face
7 sintomas
🦴
Ossos e articulações
6 sintomas
🧠
Neurológico
3 sintomas
🧬
Pele e cabelo
2 sintomas
👂
Ouvidos
1 sintomas
🫘
Rins
1 sintomas

+ 3 sintomas em outras categorias

Características mais comuns

90%prev.
Anormalidade do punho
Muito frequente (99-80%)
90%prev.
Narinas antevertidas
Muito frequente (99-80%)
90%prev.
Dermatoglifos anormais
Muito frequente (99-80%)
90%prev.
Morfologia anormal do polegar
Muito frequente (99-80%)
90%prev.
Deficiência intelectual
Muito frequente (99-80%)
90%prev.
Comportamento atípico
Muito frequente (99-80%)
25sintomas
Muito frequente (18)
Frequente (6)
Ocasional (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 25 características clínicas mais associadas, ordenadas por frequência.

Anormalidade do punhoAbnormality of the wrist
Muito frequente (99-80%)90%
Narinas antevertidasAnteverted nares
Muito frequente (99-80%)90%
Dermatoglifos anormaisAbnormal dermatoglyphics
Muito frequente (99-80%)90%
Morfologia anormal do polegarAbnormal thumb morphology
Muito frequente (99-80%)90%
Deficiência intelectualIntellectual disability
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
Pico202136 papers
Linha do tempo
2026Hoje · 2026📈 2021Ano 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 displasia epifisária-perda auditiva-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

🥈Melhor nível de evidência: Observacional
Timeline de publicações
0 papers (10 anos)
#1

Cardioacrofacial dysplasia 1: a case report and literature review.

Translational pediatrics2026 Feb 28

Cardioacrofacial dysplasia 1 [CAFD1; Online Mendelian Inheritance in Man (OMIM): #619142] is a rare skeletal ciliopathy caused by pathogenic variants in the PRKACA gene, exhibiting phenotypic overlap with conditions such as Ellis-van Creveld (EvC) syndrome. To date, only five cases have been reported worldwide, all carrying the identical p. Gly137Arg mutation. A 10-year-old male patient presented with short stature, progressive bilateral knee deformities, post-axial posterior polydactyly, and hypoplasia of teeth and nails since infancy. He had a history of partial atrial septal defect, functional single atrium, and pulmonary valve stenosis, undergoing cardiac repair at age 5 and bilateral polydactyly resection at age 7. Whole-exome sequencing (WES) confirmed a de novo heterozygous mutation in the PRKACA gene: c.409G>A (p.Gly137Arg). At age 10, the patient underwent robot-assisted bilateral proximal tibial epiphyseal fixation. One-month postoperative follow-up demonstrated significant improvement in gait and mobility. To our knowledge, this expands the known geographic distribution with PRKACA c.409G>A (p.Gly137Arg). The finding adds to prior reports that repeatedly implicate this variant; broader ascertainment is needed to establish whether it represents a true hotspot. In patients with an EvC-like phenotype who test negative for EVC/EVC2, screening of PRKACA can be considered. Prior work suggests that increased protein kinase A (PKA) catalytic activity may dampen Hedgehog (Hh) signaling, providing a plausible mechanism for the skeletal and cardiac findings. Early molecular diagnosis facilitates multidisciplinary management and genetic counseling.

#2

Prioritising conditions resulting in chronic lower limb musculoskeletal pain in children and adolescents for development of clinical practice guidelines: an Australian Delphi study.

BMC pediatrics2026 Feb 23

Children and adolescents with chronic lower limb pain may experience delayed diagnosis, misdiagnosis, insufficient or inappropriate treatment initiation or type. Developing condition-specific clinical practice guidelines is one approach to address these healthcare challenges. This research aimed to prioritise the top 10 conditions resulting in chronic lower limb musculoskeletal pain in children that would benefit from the development of Australian clinical practice guidelines. We conducted a modified three round eDelphi. Three multidisciplinary panels were provided a summary of current available evidence and any clinical practice guidelines currently available for 124 conditions identified as resulting in chronic lower limb pain. Panels rated their agreement on the need for the development of clinical practice guidelines and ranked the top 10 conditions. In the final round, parents of children with chronic lower limb musculoskeletal pain rated the appropriateness of the top 10 conditions for guideline development. Forty-four Australian health care professionals (22 allied health, 7 paediatric medical specialists, and 13 general practitioners) participated in Rounds 1 and 2 with a retention rate of 100%. Sixteen parents participated in the confirmatory round. The top 10 conditions prioritised for clinical practice guideline development were generalised joint hypermobility, growing pains, musculoskeletal pain, Juvenile Idiopathic Arthritis, joint instability, avascular necrosis, Legg-Calve-Perthes, flat foot, slipped capital femoral epiphysis and patellofemoral pain syndrome. Healthcare professionals prioritised 10 conditions that require development of clinical practice guidelines. Parents of children and adolescents with chronic lower limb pain provided feedback on the appropriateness of the 10 prioritised conditions for guideline development. These guidelines should be multidisciplinary, co-designed with families and relevant to all health settings. The online version contains supplementary material available at 10.1186/s12887-026-06600-4.

#3

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Clinical genetics2026 Apr

Stickler syndrome (SS) is clinically and genetically heterogeneous. Autosomal recessive Stickler syndrome (ARSS) is characterized by sensorineural hearing loss, myopia, retinal degeneration, vitreous anomalies, and epiphyseal dysplasia. It may also include midfacial hypoplasia, cleft palate, and skeletal manifestations. Currently, only 40 ARSS cases have been described, and just 4 are linked to pathogenic variants in the LOXL3 gene. A 20-year-old woman was referred to Medical Genetics due to Pierre Robin sequence, myopia, hearing loss, and distinct features. She was evaluated in early childhood with her sisters but was discharged without a specific genetic diagnosis. Polyhydramnios was detected in prenatal ultrasounds. Delivery occurred at 35 weeks. At birth, Pierre Robin sequence was evident, and she was admitted due to apnea. Complementary tests included karyotype, FISH 22q11, and screening for associated anomalies (cardiology, ophthalmology, ABR, and abdominal and cranial ultrasounds), all of which were normal. She had delayed speech development. She presents high myopia and bilateral conductive hearing loss, as well as nonspecific joint pain. She has two sisters with overlapping phenotypes. Both had cleft palate repair (one also with Pierre Robin sequence) and high-degree myopia. The first had a ventricular septal defect that spontaneously closed at age 5, and the second has conductive hearing loss. The physical examination highlights: microcephaly (head circumference < p1, -2.5 SD), downward-slanting palpebral fissures, midfacial and nasal ala hypoplasia, flat nasal bridge, elongated and flat philtrum, high-arched palate, absent uvula, joint hypermobility, shortening of third-fifth metacarpals and metatarsals, wide feet, and bilateral hallux valgus. Targeted sequencing of SS-associated genes revealed a likely pathogenic variant c.1735C>T and a variant of uncertain significance c.956G>A in the LOXL3 gene. Affected sisters carry both variants; both parents are healthy carriers. We report three new cases of SS due to previously undescribed biallelic variants in the LOXL3 gene. The clinical features are similar to those observed in other SS patients; however, digital anomalies and microcephaly have not been previously reported in patients with LOXL3 variants, thus expanding the phenotypic spectrum. This case highlights the importance of re-evaluating patients in light of ongoing advances in genetic diagnostics.

#4

Effectiveness of Modified Ulnar Metaphyseal Wedge Osteotomy in Treating Ulnar Impaction Syndrome: A Comparative Clinical Study.

Langenbeck's archives of surgery2026 Mar 02

Ulnar shortening osteotomy (USO) is a standard surgical treatment for ulnar impaction syndrome. This study introduces a modified ulnar metaphyseal wedge osteotomy (MUMWO) and compares its outcomes with conventional diaphyseal ulnar shortening osteotomy (DUSO). In this retrospective cohort study, we compared postoperative functional outcomes and operative characteristics between patients undergoing traditional diaphyseal ulnar shortening osteotomy (n=18) and those receiving our modified ulnar metaphyseal wedge osteotomy (n=13) for treatment of ulnar impaction syndrome. No differences were observed in patients characteriscs, ulnar variance, pain and functional score between two groups at the baseline. Patients underwent modified ulnar metaphyseal wedge osteotomy showed significant improvements in pain, Quick-DASH scores, wrist extension, wrist flexion, supination, and pronation (All P≤ 0.001). Compared to diaphyseal ulnar shortening osteotomy, modified ulnar metaphyseal wedge osteotomy was associated with less degree of ulnar shortening, shorter surgery time, and reduced intraoperative blood loss (All P < 0.05). After adequate follow-up time, modified ulnar metaphyseal wedge osteotomyshowed lower rate to remove implants, greater improvement in pain and Quick-Disability of the Arm, Shoulder, and Hand questionnaire scores (Both P<0.001). Modified ulnar metaphyseal wedge osteotomy of the ulnar shaft and epiphysis optimizes the osteotomy plane and angle, allowing for precise decompression while preserving sufficient bone mass. These biomechanical advantages contribute to better early functional recovery and reduced surgical trauma. However, its potential role in delaying DRUJ degeneration and other complications requires further validation through more large-scale, randomized clinical trials.

#5

A Review of Pediatric Orthopedic Disorders: Diagnosis and Treatment Updates.

Cureus2026 Jan

Orthopedic disorders in pediatrics have a broad range of congenital and acquired musculoskeletal ailments, which significantly affect development, mobility, and quality of life in children. This review summarizes the existing evidence in the management of major disorders, such as developmental dysplasia of the hip, clubfoot, scoliosis, slipped capital femoral epiphysis, fractures, and neuromuscular syndromes. The relevant studies were identified by a thorough search in PubMed, EMBASE, Cochrane Library databases, recent trials, and consensus guidelines. Technological improvements such as ultrasonographic screening, the Ponseti method, producing a success rate of more than 90%, growth modulation implants, and motorized limb lengthening systems have enhanced the outcome and minimized the surgical load. Nevertheless, there are still issues such as inconsistency in the protocols, a lack of comparative research, and inequality in access to special care. New technologies, such as three-dimensional imaging, patient-specific instrumentation, and artificial intelligence-based predictive models, have the potential to be more precise but will need tight scrutiny of safety and cost-effectiveness. In future studies, multicenter trials, standardized outcomes with patient-reported outcome measures, and consensus guidelines to standardize care should be given priority. Continued investment in training, infrastructure, and international collaboration will be needed to ensure that innovations are fairly introduced and can be measured as leading to measurable improvement in musculoskeletal health and functioning of children across the world.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 198

2026

Cardioacrofacial dysplasia 1: a case report and literature review.

Translational pediatrics
2026

Effectiveness of Modified Ulnar Metaphyseal Wedge Osteotomy in Treating Ulnar Impaction Syndrome: A Comparative Clinical Study.

Langenbeck's archives of surgery
2026

Prioritising conditions resulting in chronic lower limb musculoskeletal pain in children and adolescents for development of clinical practice guidelines: an Australian Delphi study.

BMC pediatrics
2026

A Review of Pediatric Orthopedic Disorders: Diagnosis and Treatment Updates.

Cureus
2025

"Less is More"- A Minimalistic Surgical Intervention to Correct the Right Upper Limb Deformity in an Isolated Right Radial Club Hand: A Case Report.

Journal of orthopaedic case reports
2026

Adult duck fecal microbiota transplantation alleviates short beak and dwarfism syndrome in ducklings by inhibiting Th17 cell differentiation.

Virulence
2025

Internal diseases and molecular mechanisms causing slipped capital femoral epiphysis in children.

World journal of orthopedics
2025

SMN deficiency inhibits endochondral ossification via promoting TRAF6-induced ubiquitination degradation of YBX1 in spinal muscular atrophy.

Bone research
2025

The "6 Plate": A Novel Open Device for Rotational Guided Growth-A Pilot Research in the Ovine Femur.

Journal of the Pediatric Orthopaedic Society of North America
2025

Peripheral Precocious Puberty Due to Autonomous Gonadal Activation: A Multicenter Experience.

Cureus
2025

Rabbits as preclinical animal models of cam morphology: proof of concept.

BMC musculoskeletal disorders
2026

Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.

Clinical genetics
2026

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies.

Developmental dynamics : an official publication of the American Association of Anatomists
2025

Chondrodysplasia Punctata: A Rare Entity Identified Incidentally.

Cureus
2026

Wolcott-Rallison syndrome due to a novel homozygous missense variation (p.Gly602Val) in the exon 11 of EIF2AK3 gene.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

Distal Tibial Slipped Epiphysis in Stickler Syndrome: A Case Report.

JBJS case connector
2025

Long-Term Consequences of Misdiagnosis of Parathyroid Adenomas in Pediatric Patients.

Case reports in pediatrics
2025

Endemic congenital iodine deficiency syndrome from a 19th to 20th century poorhouse cemetery in Riggisberg, Switzerland.

International journal of paleopathology
2025

C-type natriuretic peptide and collagen X marker are aberrant in skeletal dysplasias.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2026

Ulnar Shortening With Rotational Osteotomy of the Distal Facing Sigmoid Notch for Ulnar Carpal Abutment Syndrome.

The Journal of hand surgery
2025

Improved Midterm Outcomes After Hip Arthroscopy for Femoroacetabular Impingement Syndrome in the Setting of a Previous Slipped Capital Femoral Epiphysis.

Orthopaedic journal of sports medicine
2025

Focal periphyseal edema of the knee in a junior youth tennis player: A case report.

Radiology case reports
2025

Wolcott-Rallison syndrome - crosstalk between PERK- EIF2A and type II interferon signaling.

European journal of medical genetics
2025

Wolcott-Rallison syndrome: late-onset diabetes, multiple epiphyseal dysplasia, and acute liver failure - a case report.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

Endocrine consequences of childhood obesity: a narrative review.

Frontiers in endocrinology
2025

[Minimally invasive reduction of ulnar bicortex angulation and intramedullary fixation in the treatment of Bado typeⅠchildren with Monteggia fracture].

Zhongguo gu shang = China journal of orthopaedics and traumatology
2025

Expanding the Clinical Spectrum of BCARD Syndrome Caused by Novel Biallelic Variants in the PLOD3 Gene.

Clinical genetics
2025

Impact of contralateral pelvic drop and femoral adduction on the femoral head acetabular coverage: A study on the reproducibility of a new radiographic measurement method.

Journal of experimental orthopaedics
2025

Novel estrogen receptor-α gene inactivating missense variant in a woman: Therapeutic challenge and long-term follow-up data.

Bone
2025

A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype.

Molecular genetics and metabolism reports
2025

Obstructive Sleep Apnea-Hypopnea Syndrome (OSAHS) in Patients With Acromegaly in Colombia.

Cureus
2025

No Significant Differences in Clinical Outcomes Were Observed Between Healed and Unhealed Hip Joint Capsules in Femoroacetabular Impingement Syndrome After Arthroscopy.

Arthroscopy : the journal of arthroscopic &amp; related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association
2024

Efficacy of cartilage-targeted IGF-1 in a mouse model of growth hormone insensitivity.

Frontiers in endocrinology
2025

Arthroscopic Bone Grafting of Deep Acetabular Cysts in Hip Preservation Surgery: A Matched Case-Control Study.

Orthopaedic journal of sports medicine
2025

Adolescent primary hyperparathyroidism.

Best practice &amp; research. Clinical endocrinology &amp; metabolism
2025

Endoplasmic reticulum stress causes long bone shortening in P4hbC402R/+ mice: A mouse model exhibiting significant features of cole-carpenter syndrome driven by P4HB mutations.

Biochimica et biophysica acta. Molecular basis of disease
2024

Cervical spinal decompression and fusion in the setting of Wolcott-Rallison Syndrome: a rare pediatric indication and its surgical considerations.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Inverted dome radial osteotomy and ulnar shortening for neglected paediatric distal radial epiphyseal injury with ulnar impaction syndrome.

The Journal of hand surgery, European volume
2025

From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.

American journal of medical genetics. Part A
2024

The Rising Popularity of Growth Hormone Therapy and Ensuing Orthopedic Complications in the Pediatric Population: A Review.

Children (Basel, Switzerland)
2024

Normal Bone Matrix Mineralization but Altered Growth Plate Morphology in the LmnaG609G/G609G Mouse Model of Progeria.

Aging and disease
2024

Cant1 Affects Cartilage Proteoglycan Properties: Aggrecan and Decorin Characterization in a Mouse Model of Desbuquois Dysplasia Type 1.

Biomolecules
2024

Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2023

[Disappearing bone disease of the shoulder (Gorham-Stout Syndrom)].

Revista medica de Chile
2024

Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda.

American journal of medical genetics. Part A
2024

A Modified 4-in-1 Stanisavljevic Procedure for Treating Obligatory or Congenital Patellar Dislocations in Children: A Surgical Technique.

HSS journal : the musculoskeletal journal of Hospital for Special Surgery
2023

[Syndromic growth retardation caused by impaired function of the ribosomal protein eL13].

Problemy endokrinologii
2024

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review.

Children (Basel, Switzerland)
2024

How Is Variability in Femoral and Acetabular Version Associated With Presentation Among Young Adults With Hip Pain?

Clinical orthopaedics and related research
2024

Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome.

Reviews in endocrine &amp; metabolic disorders
2024

Pulmonary Embolism in Klippel-Trenaunay-Weber Syndrome With Slipped Capital Femoral Epiphysis.

Journal of the American Academy of Orthopaedic Surgeons. Global research &amp; reviews
2024

Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.

Human molecular genetics
2024

Operative Treatment of Distal Tibial Fractures in Children Managed With Epiphyseal Screws: A Comparison of Outcomes When Screws Are Retained Versus Removed Following Fracture Union.

Journal of pediatric orthopedics
2024

Alcohol intake during pregnancy reduces offspring bone epiphyseal growth plate chondrocyte proliferation through transforming growth factor β-1 inhibition in the Sprague Dawley rat humerus.

Anatomy &amp; cell biology
2024

Recurrent Liver Failure Due to Wolcott Rallison Syndrome.

Indian journal of pediatrics
2024

Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.

Clinical genetics
2024

How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype.

European journal of medical genetics
2024

Heterogeneity and high prevalence of bone manifestations, and bone mineral density in congenital generalized lipodystrophy subtypes 1 and 2.

Frontiers in endocrinology
2024

The McMaster osteotomy-a novel surgical treatment to chronic slipped capital femoral epiphysis: description of surgical technique and case study.

Journal of hip preservation surgery
2024

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.

European journal of medical genetics
2024

Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature.

Journal, genetic engineering &amp; biotechnology
2024

IFT140 Mutation and End-Stage Renal Disease in Mainzer-Saldino Syndrome: A Case Report.

Cureus
2024

Longitudinal skeletal growth and growth plate morphological characteristics of chondro-tissue specific CUL7 knockout mice.

Annals of anatomy = Anatomischer Anzeiger : official organ of the Anatomische Gesellschaft
2024

Emergency Department Volume and Delayed Diagnosis of Serious Pediatric Conditions.

JAMA pediatrics
2024

Positive outcome reporting in orthopaedic literature.

The bone &amp; joint journal
2024

A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.

Molecular genetics &amp; genomic medicine
2024

Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.

Arthritis &amp; rheumatology (Hoboken, N.J.)
2024

Phalangeal microgeodic syndrome: a paediatric case series.

Skeletal radiology
2024

Natural history of Wolcott-Rallison syndrome: A systematic review and follow-up study.

Liver international : official journal of the International Association for the Study of the Liver
2023

Childhood and Adolescent Sports-Related Overuse Injuries.

American family physician
2024

Management strategies for optimal linear growth in Noonan syndrome (NS) children: minireview and case series of three patients with NS due to PTPN11 mutation and confirmed growth hormone deficiency.

Endokrynologia Polska
2023

Identification of novel genes including NAV2 associated with isolated tall stature.

Frontiers in endocrinology
2023

Pituitary stalk interruption syndrome and liver cirrhosis associated with diabetes and an inactivating KCNJ11 gene mutation: a case report and literature review.

Frontiers in endocrinology
2023

Problems With Medium-Sized Joints: Wrist Conditions.

FP essentials
2023

Delayed Presentation of Popliteal Artery Injury after Salter-Harris III Proximal Tibia Fracture.

Case reports in orthopedics
2024

Lentiviral Gene Therapy for Mucopolysaccharidosis II with Tagged Iduronate 2-Sulfatase Prevents Life-Threatening Pathology in Peripheral Tissues But Fails to Correct Cartilage.

Human gene therapy
2023

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.

Nature communications
2023

Subchondral insufficiency fractures, subchondral insufficiency fractures with osteonecrosis, and other apparently spontaneous subchondral bone lesions of the knee-pathogenesis and diagnosis at imaging.

Insights into imaging
2023

Bilateral Distal Humeral Physeal Separation-From Birth Trauma to Family Trauma.

Journal of orthopaedic case reports
2024

Management of Tracheobronchial Stenosis in Chondrodysplasia Punctata.

The Laryngoscope
2023

Effects of different obesogenic diets on joint integrity, inflammation and intermediate monocyte levels in a rat groove model of osteoarthritis.

Frontiers in physiology
2023

Effects of Leptin and Body Weight on Inflammation and Knee Osteoarthritis Phenotypes in Female Rats.

JBMR plus
2023

Can pelvic tilt cause cam morphology? A computational model of proximal femur development mechanobiology.

Journal of biomechanics
2023

Hinge abduction hip dysplasia in (morquio a syndrome) treated by proximal femoral valgization osteotomy: a rare case report.

Annals of medicine and surgery (2012)
2023

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome.

Frontiers in genetics
2023

[99m Tc] Tc-MDP bone SPECT/CT diagnosing unstable slipped capital femoral epiphysis with secondary AVN in a patient with misleading knee pain.

Clinical case reports
2023

Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2.

Frontiers in genetics
2023

Onychodystrophy with Multiple Epiphyseal Dysplasia: Literature Review.

Skin appendage disorders
2023

Legg-Calvé-Perthes Disease Following Nephrotic Syndrome With Long-Term Steroid Use in a Three-Year-Old Boy: A Case Report.

Cureus
2023

Xylosyltransferase I mediates the synthesis of proteoglycans with long glycosaminoglycan chains and controls chondrocyte hypertrophy and collagen fibers organization of in the growth plate.

Cell death &amp; disease
2023

The Application of Optical Genome Mapping (OGM) in Severe Short Stature Caused by Duplication of 15q14q21.3.

Genes
2023

Patterns of symptoms and insufficiency fractures in patients with tumour-induced osteomalacia.

The bone &amp; joint journal
2024

Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia-Wolcott-Rallison's Syndrome.

Journal of pediatric genetics
2023

[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2023

Non-osteopenic Bone Pathology After Allo-hematopoietic Stem Cell Transplantation in Patients with Inborn Errors of Immunity.

Journal of clinical immunology
2023

The Association of Cone-shaped Epiphysis and Poland Syndrome.

Plastic and reconstructive surgery. Global open
2023

Atraumatic Bone Marrow Edema Involving the Epiphyses.

Seminars in musculoskeletal radiology
2023

Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant.

The Turkish journal of pediatrics
2023

Conradi-Hünerman-Happle Syndrome and Obsessive-Compulsive Disorder: a clinical case report.

BMC psychiatry
2022

Growth in girls with Turner syndrome.

Frontiers in endocrinology
2023

Concurrent intraosseous cartilaginous lesions in patients with multiple osteochondromas identified on total-body MR imaging.

Skeletal radiology
2023

A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV).

Pediatric radiology
2023

The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients.

Turkish archives of pediatrics
2022

CORONAL PLANE GROWTH MODULATION FOR GENU VALGUM IN SKELETAL DYSPLASIA.

Acta ortopedica brasileira
2022

Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report.

Children (Basel, Switzerland)
2022

Melatonin: Manager of psychosomatic and metabolic disorders in polymorbid cardiovascular pathology.

Frontiers in neuroscience
2022

Extent of Cam Resection Relative to Epiphyseal Line and Its Association With Clinical Outcomes After Arthroscopic Treatment for Femoroacetabular Syndrome.

Orthopaedic journal of sports medicine
2022

Skeletal Outcomes in Children and Young Adults with Glomerular Disease.

Journal of the American Society of Nephrology : JASN
2022

Wolcott-Rallison syndrome: a case series of three patients.

Pediatric endocrinology, diabetes, and metabolism
2022

Factors affecting prepubertal and pubertal bone age progression.

Frontiers in endocrinology
2022

Identifying patients with EVEN-plus syndrome using exome sequencing and clinical feature analysis: A case report.

Molecular genetics &amp; genomic medicine
2022

Cranial Base Synchondrosis: Chondrocytes at the Hub.

International journal of molecular sciences
2022

Torticollis in Connection with Spine Phenotype.

Diagnostics (Basel, Switzerland)
2022

Aromatase deficiency caused by mutation of CYP19A1 gene: A case report.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
2022

Moyamoya Syndrome in Schimke Immune-Osseous Dysplasia: A Rare Association.

Cureus
2023

Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5.

Annals of pediatric endocrinology &amp; metabolism
2022

Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.

American journal of medical genetics. Part A
2022

Intracranial bifocal germinoma.

Radiology case reports
2022

Anterior Cruciate Ligament Agenesia in a Patient with Ehlers-Danlos Syndrome and Open Physes.

Journal of orthopaedic case reports
2022

Primary Hyperparathyroidism From Ectopic Parathyroid Adenoma in a 12-Year-Old With Slipped Capital Femoral Epiphysis.

Journal of the Endocrine Society
2022

Fibrillin-1 deficiency in the outer perichondrium causes longitudinal bone overgrowth in mice with Marfan syndrome.

Human molecular genetics
2022

Functional outcomes are preserved in adult acetabular dysplasia with radiographic evidence of lumbosacral spine anomalies: an investigation in hip-spine syndrome.

BMC musculoskeletal disorders
2022

Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report.

Children (Basel, Switzerland)
2021

Freeman-Sheldon Syndrome with Stiff Knee Gait - A Case Report.

Journal of orthopaedic case reports
2021

Salter-Harris Type 2 Injury of the Proximal Tibial Epiphysis in a 15-year-old Athlete: A Rare Case Report.

Journal of orthopaedic case reports
2022

Conradi-Hünermann-Happle syndrome associated with severe hypocalcemia in a newborn.

Pediatric dermatology
2022

Upper Extremity Injuries in Rock Climbers: Diagnosis and Management.

The Journal of hand surgery
2022

Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features.

Molecular syndromology
2022

[Femoroacetabular impingement syndrome in adolescents-How to adivse? How to treat?].

Der Orthopade
2022

Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.

European journal of medical genetics
2021

The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma.

The Turkish journal of pediatrics
2021

Osteochondral necrosis of the femoral condyles in Thoroughbred foals: eight cases (2008-2018).

Journal of the American Veterinary Medical Association
2021

Hereditary Multiple Exostoses-A Review of the Molecular Background, Diagnostics, and Potential Therapeutic Strategies.

Frontiers in genetics
2021

Lissencephaly-pachygyria spectrum in a North Indian boy with Wolcott-Rallison syndrome due to homozygous deletion of exon 1 in the EIF2AK3 gene.

Pediatric endocrinology, diabetes, and metabolism
2022

FoxO3a cooperates with RUNX1 to promote chondrogenesis and terminal hypertrophic of the chondrogenic progenitor cells.

Biochemical and biophysical research communications
2021

Tubuloglomerular Disease With Cone-Shaped Epiphyses Associated With Hypomorphic Variant and a Novel p.Cys14Arg in the TTC21B Gene: A Case Report.

Frontiers in pediatrics
2023

A case of nail-patella syndrome with osteochondral lesion of the lateral femoral condyle accompanied with anomalies of anterior horns of the menisci and lateral femoral condyle.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
2021

Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature.

Biomolecules
2022

A comprehensive review of the "supracondylar process" with translation of Adachi.

Clinical anatomy (New York, N.Y.)
2021

Chondrocyte Polarity During Endochondral Ossification Requires Protein-Protein Interactions Between Prickle1 and Dishevelled2/3.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
2021

Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome.

BMJ case reports
2021

A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report.

BMC medical genomics
2021

Polyostotic fibrous dysplasia (McCune-Albright) with rare multiple epiphyseal lesions in association with aneurysmal bone cyst and pathologic fracture.

Radiology case reports
2021

Slipped Capital Femoral Epiphysis in an Adult with Panhypopituitarism: A Case Report.

JBJS case connector
2021

Cutaneous Complications Associated With Intraosseous Access Placement.

Cutis
2021

Slipped capital femoral epiphysis in a healed Perthes hip.

BMJ case reports
2021

Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.

Acta reumatologica portuguesa
2021

Primary cam morphology; bump, burden or bog-standard? A concept analysis.

British journal of sports medicine
2021

Screw Fixation of Pediatric Tibial Tubercle Fractures.

JBJS essential surgical techniques
2021

Evidence That Non-Syndromic Familial Tall Stature Has an Oligogenic Origin Including Ciliary Genes.

Frontiers in endocrinology
2021

Spotted bones in an osteopoikilosis-related disease (Buschke Ollendorff Syndrome): Identifying this rare condition from the lab to the field.

International journal of paleopathology
2021

Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.

American journal of medical genetics. Part A
2020

Closed Reduction of Pediatric Distal Radial Fractures and Epiphyseal Separations.

JBJS essential surgical techniques
2022

Multicenter Outcomes After Primary Hip Arthroscopy: A Comparative Analysis of Two-Year Outcomes After Labral Repair, Segmental Labral Reconstruction, or Circumferential Labral Reconstruction.

Arthroscopy : the journal of arthroscopic &amp; related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association
2021

Total Hip Arthroplasty in a Patient with Mucopolysaccharidosis Type IVB.

Case reports in orthopedics
2020

Bilateral Recurrent, Atraumatic Anterior Knee Dislocations in a Pediatric Patient With Congenital Absence of the Anterior Cruciate Ligament.

Journal of the American Academy of Orthopaedic Surgeons. Global research &amp; reviews
2021

Long-term follow-up of a child with Wolcott-Rallison syndrome.

BMJ case reports
2023

Epiphysiolysis in a 22-year-old Patient with Congenital Hypogonadotropic Hypogonadism: Case Report.

Revista brasileira de ortopedia
2022

Post-traumatic entrapment of the median nerve in the ulno-humeral joint: Diagnosis, treatment and literature review.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association
2021

Genetics of Acromegaly and Gigantism.

Journal of clinical medicine
2021

[Toddler's Fractures: Definition, Differences between the Diagnostic and Therapeutic Approach].

Acta chirurgiae orthopaedicae et traumatologiae Cechoslovaca
2021

Challenging Diagnosis of Stickler Syndrome in a Patient with Premature Osteoarthritis: A Case Report.

JBJS case connector
2021

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.

International journal of molecular sciences
2021

Monomelic Maffucci syndrome.

BMJ case reports
2021

Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment.

European journal of human genetics : EJHG
2021

Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies.

The Journal of clinical endocrinology and metabolism
2020

Bilateral slipped capital femoral epiphysis as first manifestation of primary hyperparathyroidism in a 15-year-old boy.

Pediatric endocrinology, diabetes, and metabolism
2021

Non-axial osteoarticular tuberculosis in the paediatric age.

Revista espanola de cirugia ortopedica y traumatologia (English ed.)
2021

Wolcott-Rallison Syndrome Affecting Three Consecutive Conceptions of a Consanguineous Couple.

Indian pediatrics
2021

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders.

American journal of medical genetics. Part A
2020

[A clinical case of aromatase excess syndrome associated with 15Q21.2 duplication].

Problemy endokrinologii
2020

[Diagnosis of complete transphyseal separation of the distal humerus].

Ugeskrift for laeger
2021

Ulna shortening osteotomy versus arthroscopic wafer procedure in the treatment of ulnocarpal impingement syndrome.

Hand surgery &amp; rehabilitation
2020

TRPS1 mutation detection in Chinese patients with Tricho-rhino-phalangeal syndrome and identification of four novel mutations.

Molecular genetics &amp; genomic medicine
2021

A new family with epiphyseal chondrodysplasia type Miura.

American journal of medical genetics. Part A
2020

Short rib thoracic dysplasia without polydactyly due to novel variant in IFT172 gene.

Journal of postgraduate medicine
2020

IFT144 and mild retinitis pigmentosa in Mainzer-Saldino syndrome: A new association.

European journal of medical genetics
2020

EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.

American journal of medical genetics. Part A
2020

Slipped capital femoral epiphysis in an ambulant patient with spastic cerebral palsy. A long-term evolution.

Anales del sistema sanitario de Navarra
2021

Bilateral double-layered patella in a patient with advanced knee osteoarthritis.

Folia morphologica
2020

Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis.

American journal of medical genetics. Part A
2020

Chondrodysplasia punctata and neonatal lupus in an infant with positive anti-RNP and negative anti-Ro/SSA and -La/SSB antibodies, a case report.

Pediatric dermatology
2020

Mutations in COMP cause familial carpal tunnel syndrome.

Nature communications
2020

Current concepts in the management Radial Longitudinal Deficiency.

Journal of clinical orthopaedics and trauma
2020

Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report.

Skin appendage disorders
2020

Disorganization of chondrocyte columns in the growth plate does not aggravate experimental osteoarthritis in mice.

Scientific reports
2020

Is Hip Arthroscopy an Adequate Therapy for the Borderline Dysplastic Hip? Correlation Between Radiologic Findings and Clinical Outcomes.

Orthopaedic journal of sports medicine
2020

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Human molecular genetics
2020

Unique skeletal manifestations in patients with Primrose syndrome.

European journal of medical genetics
2020

Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation.

Archives of oral biology
2020

Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.

Molecular genetics &amp; genomic medicine
2020

Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report.

BMC nephrology
2020

The Outside-In Technique for Slipped Capital Femoral Epiphysis: A Safe and Reproducible Approach in Hip Arthroscopy.

Arthroscopy techniques
2020

Diabetes management in Wolcott-Rallison syndrome: analysis from the German/Austrian DPV database.

Orphanet journal of rare diseases
2020

CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage.

FEBS open bio
2020

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary.

BMC medical genetics
2020

[Myofascial trigger point: an indicator of acupoint sensitization].

Zhen ci yan jiu = Acupuncture research
2020

Skeletal maturation and long-bone growth patterns of patients with progeria: a retrospective study.

The Lancet. Child &amp; adolescent 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. Cardioacrofacial dysplasia 1: a case report and literature review.
    Translational pediatrics· 2026· PMID 41810204mais citado
  2. Prioritising conditions resulting in chronic lower limb musculoskeletal pain in children and adolescents for development of clinical practice guidelines: an Australian Delphi study.
    BMC pediatrics· 2026· PMID 41731457mais citado
  3. Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
    Clinical genetics· 2026· PMID 41052910mais citado
  4. Effectiveness of Modified Ulnar Metaphyseal Wedge Osteotomy in Treating Ulnar Impaction Syndrome: A Comparative Clinical Study.
    Langenbeck's archives of surgery· 2026· PMID 41772121mais citado
  5. A Review of Pediatric Orthopedic Disorders: Diagnosis and Treatment Updates.
    Cureus· 2026· PMID 41694946mais citado
  6. Ulnar Shortening With Rotational Osteotomy of the Distal Facing Sigmoid Notch for Ulnar Carpal Abutment Syndrome.
    J Hand Surg Am· 2026· PMID 40580175recente
  7. Inverted dome radial osteotomy and ulnar shortening for neglected paediatric distal radial epiphyseal injury with ulnar impaction syndrome.
    J Hand Surg Eur Vol· 2025· PMID 39668575recente
  8. Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.
    J Bone Miner Res· 2024· PMID 39276366recente
  9. A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.
    Mol Genet Genomic Med· 2024· PMID 38284453recente
  10. Phalangeal microgeodic syndrome: a paediatric case series.
    Skeletal Radiol· 2024· PMID 38244062recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1825(Orphanet)
  2. MONDO:0015941(MONDO)
  3. GARD:2178(GARD (NIH))
  4. Busca completa no PubMed(PubMed)
  5. Q55785829(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

Síndrome de displasia epifisária-perda auditiva-dismorfia

ORPHA:1825 · MONDO:0015941
Prevalência
<1 / 1 000 000
Casos
2 casos conhecidos
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
Início
Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4707857
Wikidata
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