A síndrome do apêndice caudal e surdez se caracteriza pela presença de um apêndice semelhante a uma cauda, ossos curtos nas pontas dos dedos das mãos e dos pés, surdez, testículos que não desceram, deficiência intelectual, baixa estatura e diferenças nas características físicas. Ela foi descrita em meninos gêmeos idênticos.
Introdução
O que você precisa saber de cara
A síndrome do apêndice caudal e surdez se caracteriza pela presença de um apêndice semelhante a uma cauda, ossos curtos nas pontas dos dedos das mãos e dos pés, surdez, testículos que não desceram, deficiência intelectual, baixa estatura e diferenças nas características físicas. Ela foi descrita em meninos gêmeos idênticos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
+ 2 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 7 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome de apêndice caudal-surdez
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.
Publicações mais relevantes
A rare case of caval foramen hernia involving the small intestines and hepatic lobes in a dog.
A 6-year-old intact male French Bulldog presented with a 5-day history of vomiting. Radiographs revealed a round soft tissue mass in the right caudal thoracic cavity with tubular structures suggestive of small intestinal herniation through the diaphragm. Ultrasonography confirmed herniation of fluid-filled small intestinal loops and hepatic lobes positioned cranial to the diaphragm. Computed tomography (CT) revealed herniation of the involved organs through a dilated caval foramen and secondary caudal vena cava compression, consistent with Budd-Chiari-like syndrome resulting from venous outflow obstruction. Laparotomy confirmed strangulation of herniated organs, necessitating partial hepatectomy and segmental enterectomy. This case highlights the potential for small intestinal involvement in caval foramen hernia and underscores the diagnostic value of CT in assessing associated vascular compromise.
Management of an infant with prune belly syndrome under caudal anaesthesia undergoing laparoscopic surgery.
Prune belly syndrome (PBS) is a rare congenital disorder predominantly affecting male infants and is characterised by deficient abdominal musculature, urinary tract anomalies and bilateral cryptorchidism. Its multisystem involvement presents significant anaesthetic challenges. We report the anaesthetic management of a male infant with PBS posted for laparoscopic first-stage orchidopexy. Examination revealed a flabby, wrinkled abdomen with bulging flanks, easily palpable enlarged hydronephrotic kidneys, a hypoplastic scrotum and absent testes. After obtaining written informed consent and ensuring appropriate fasting, caudal anaesthesia was administered in the lateral position under ketamine sedation. Surgery was performed laparoscopically in the supine position. Adequate surgical conditions were achieved without airway instrumentation or neuromuscular blockade, and the perioperative course was uneventful. This case highlights that in carefully selected infants undergoing short, uncomplicated laparoscopic procedures, high-volume dilute caudal anaesthesia with sedation can be a safe and effective alternative to general anaesthesia in PBS.
Sacral dimple: clinical perspectives of lesions hidden beneath the skin.
Sacral dimples are the most common cutaneous anomalies in newborns. While usually benign anatomical variants, some dimples are indicative of occult spinal dysraphism, such as a tethered cord, dermal sinus tract, or lipomyelomeningocele, that, if undiagnosed, may cause irreversible neurological, orthopedic, and urological deficits. Distinguishing benign from high-risk dimples is essential for timely intervention. This review summarizes the embryological origins, diagnostic criteria, imaging approaches, and management strategies for sacral dimples to help clinicians identify cases requiring further evaluation. A comprehensive literature review examines the embryology of caudal spinal development, classification of spinal dysraphism, and studies of the diagnostic accuracy of ultrasonography and magnetic resonance imaging (MRI) in infants with sacral dimples. Guidelines and high-quality studies of the surgical outcomes of tethered cords and related anomalies were also analyzed. The literature search and study selection followed the Preferred Reporting Items for Systematic Reviews and Meta- Analyses flow. Simple sacral dimples-solitary midline depressions less than 5 mm in diameter, located within 2.5 cm of the anus, and lacking associated cutaneous stigmata-are not associated with spinal dysraphism and do not require imaging. In contrast, atypical dimples (large, deep, off-midline, or associated with skin markers such as hair tufts or hemangiomas) are significantly associated with occult anomalies and warrant imaging, beginning with spinal ultrasonography in neonates and MRI in older infants or equivocal cases. Conditions such as tethered cord, dermal sinus tract, lipomyelomeningocele, and split cord malformations are best visualized using MRI. Early surgical detethering improves neurological, orthopedic, and bladder outcomes, whereas delayed intervention risks permanent deficits. Applying standardized criteria and targeted imaging avoids unnecessary investigations while ensuring a timely diagnosis of occult spinal dysraphism. Early recognition and appropriate surgical management, when indicated, are critical for preventing neurological deterioration and improving the prognosis of affected infants.
[Ultrasound-Guided Injection of the Thoracolumbar Fascia in the Treatment of Low Back Pain: Methodological Approach and Anatomical Study].
To develop an anatomically verified protocol for ultrasound-guided analgesic interventions targeting the thoracolumbar fascia region for the treatment of both acute and chronic back pain. One cadaver was embalmed using the Fix-4-Life method, which preserves tissue properties suitable for subsequent ultrasound visualization. Under ultrasound guidance, a needle was inserted to the thoracolumbar fascia at the level of the transverse process of the fourth lumbar vertebra. Upon contact with the transverse process, 5 ml of diluted red latex dye was injected. The distribution of the injected fluid was then observed through anatomical dissection. This cadaveric study confirmed that ultrasound-guided injection into the middle layer of the thoracolumbar fascia is both accurate and technically feasible. The dye demonstrated substantial potential to spread within the targeted area, distributing mediolaterally among the structures of the m. erector trunci and cranio-caudally over a range exceeding 10 cm, encompassing nearly four spinal segments. Back pain of various etiologies remains a major interdisciplinary challenge. Refining therapeutic techniques may improve the outcomes. The thoracolumbar fascia represents a promising target for delivering local anesthetics, depot corticosteroids, and next-generation hyaluronic acid derivatives. This study confirms the accuracy and feasibility of ultrasound-guided interventions targeting the thoracolumbar fascia.
Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.
Currarino syndrome (CS) is a congenital disorder caused by MNX1 gene mutation, resulting in abnormal caudal cell mass development. Clinical presentation varies from severe to mild forms. Classic triad of CS includes sacral agenesis, presacral mass, and anorectal malformation (ARM). We report a pair of monozygotic twins, both with the MNX1: c.780C>G mutation, presenting with different clinical phenotypes of Currarino syndrome (CS). Both were suspected of anorectal atresia in utero, and postnatal diagnosis confirmed CS with tethered cord syndrome (TCS). They underwent staged surgeries, with normal growth at 10 months follow-up. Additionally, a retrospective analysis of 95 CS cases diagnosed between April 2010 and April 2024 at Shanghai Xinhua Hospital was performed. Clinical, imaging, and pathological data were collected, and binary logistic regression was used to analyze the correlation between clinical factors and TCS. A literature review of twin CS cases was also conducted. Of the 95 patients, 23.2% had complete CS, and 76.8% had incomplete CS. TCS was present in 55.8% of cases. Logistic regression showed no significant correlation between age, sex, sacral deformity severity, ARM type, presacral mass, and TCS. Two previous twin CS cases were identified, both with differing phenotypes. CS exhibits phenotypic variability, and monozygotic twins with the same MNX1 mutation may present with different severities. The MNX1: c.780C>G mutation broadens the genetic spectrum of CS. TCS is common, emphasizing the need for multidisciplinary management. Surgical approaches should be personalized based on presentation.
Publicações recentes
A Novel Report of Müllerian (Vaginal/Uterine) Agenesis in a Newborn Girl With LUMBAR Syndrome.
🥇 Revisão sistemáticaRay-Resorption Syndrome in European Seabass, Dicentrarchus labrax (Linnaeus, 1758).
Early-onset palatal myoclonus in Wernekinck commissure syndrome secondary to caudal paramedian midbrain infarction: A case report and a mini review of the literature.
Pelvic congestion syndrome analysis through quantitative 2-dimensional phase-contrast MRI: a promising vision from an observational cohort study.
Caudal regression syndrome associated with obstructive genital tract anomaly.
📚 EuropePMCmostrando 198
[Ultrasound-Guided Injection of the Thoracolumbar Fascia in the Treatment of Low Back Pain: Methodological Approach and Anatomical Study].
Acta chirurgiae orthopaedicae et traumatologiae CechoslovacaClinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.
Congenital anomaliesElastographic Evaluation of the Adrenal Glands of Dogs With Hypercortisolism.
Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology AssociationUltrasound-guided selective nerve root blocks and caudal epidural injection in the management of lumbar radicular syndrome: a case series with one-year follow-up.
Journal of ultrasoundCauda equina syndrome caused by intradural migration of a bullet: A rare case presentation.
Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery : TJTESUnilateral biportal endoscopic partial cervical laminectomy and facetectomy: An ex vivo study and case report.
Veterinary surgery : VSA Splice Acceptor Variant in DLL3 Is Associated with Spondylocostal Dysostosis in a Litter of Mixed-Breed Dogs.
GenesCorrelation between cerebellar lesion topography and differential diagnosis with clinical presentation in dogs.
Journal of veterinary internal medicineA rare case of caval foramen hernia involving the small intestines and hepatic lobes in a dog.
The Journal of veterinary medical scienceAltered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder.
Autism research : official journal of the International Society for Autism ResearchOptimizing Venographic Referrals in Pelvic Congestion Syndrome: A Prospective Diagnostic Accuracy Study of Ultrasound-Based Scoring to Guide Selective Venography.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineAn Unusual Case of Persistent Vitelline Vein in a Pediatric Liver Transplant Recipient: A Case Report.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationExpansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion.
American journal of medical genetics. Part ACase Report: Budd-Chiari-like syndrome in a cat with polycystic kidney and liver disease.
Frontiers in veterinary scienceManagement of an infant with prune belly syndrome under caudal anaesthesia undergoing laparoscopic surgery.
BMJ case reportsCaudal Duplication Syndrome: A Case Report Emphasizing Functional Assessment in Surgical Management.
CureusNeurotoxicity Mechanisms of Per- and Polyfluoroalkyl Substances: An Integrated Study of Network Toxicology, Molecular Docking, and Mendelian Randomization.
Neurotoxicity researchAcute fibrinous and organizing pneumonia in a dog, and brief literature review.
Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, IncSirenomelia With Complete Caudal Regression in a Preterm Infant Born to a Mother With Poorly Controlled Type 1 Diabetes Mellitus: A Case Report on Clinical Presentation and Perinatal Management Challenges.
CureusSuboccipital Atretic Cephalocele as a Marker for Joubert-Plus Syndrome: An Extended Phenotype of the CPLANE1 Gene Mutation.
CureusAnesthetic Considerations in Congenital Myasthenic Syndrome: A Case Report.
CureusInterleukin-6 as a keystone cytokine in experimental rat models of chemotherapy-induced peripheral neurotoxicity.
Scientific reportsSpinal Cord Stimulation as a Potential Therapeutic Modality for Managing Concurrent Chronic Low Back and Abdominal Pain Complicated by Device Migration: A Case Report.
Clinical case reportsCompressive spontaneous spinal epidural hematoma following cervical laminoplasty and the role of multimodal neuromonitoring: a case report.
Journal of spine surgery (Hong Kong)Purple Urine Bag Syndrome in a Young Adult With Neurogenic Bladder Secondary to Partial Caudal Regression Syndrome: A Case Report.
CureusBrain atrophy staging in spinocerebellar ataxia type 3 for clinical prognosis and trial enrichment.
EBioMedicineMeige syndrome, a cranio-cervical dystonia with a unique clinical phenotype.
Revue neurologiqueSacral dimple: clinical perspectives of lesions hidden beneath the skin.
Clinical and experimental pediatricsFrom Caudal Regression to Wieacker-Wolff Syndrome: The Decisive Role of Postmortem Examination and Exome Sequencing in Revising a Prenatal Diagnosis.
CureusBeyond Parkinson's Disease: A Narrative Review of Neuromelanin MRI in Neurodegenerative Diseases.
Journal of neuroimaging : official journal of the American Society of NeuroimagingThe Effects of Caudal Epidural Injection on Optic Nerve Sheath Diameter and Hemodynamic Parameters in Adults with Failed Back Surgery Syndrome: A Prospective Clinical Study.
Anesthesiology and pain medicineImpact of Dihydrocapsaicin on the Metabolism of Efavirenz In Vitro and In Vivo.
Pharmacology research & perspectivesHybrid lead extraction and reconstruction of the superior vena cava and right atrium for a rare type of superior vena cava syndrome: a case report.
European heart journal. Case reportsThe prevalence of aberrant turbinates and nasal septum deviation in a Portuguese population of French bulldogs.
Brazilian journal of veterinary medicineFGFR1 Tyrosine Kinase Domain Variant p.Val561Met in Caudal Dysraphism: A Case Report.
Birth defects researchA novel dynamic abdominal wall traction system for open abdomen: preclinical evaluation.
InjuryThe First Case of Liver-Intestine En-Bloc Transplantation in Japan.
Surgical case reportsFolded-flap palatoplasty and traditional staphylectomy yield similar postoperative soft palate geometry in French Bulldogs undergoing airway surgery.
Journal of the American Veterinary Medical AssociationSirenomelia and the Spectrum of Caudal Anomalies: Clinical Reflections From a Preterm Termination.
Clinical case reports[Dynamics of caudal dystopia of cerebellar tonsils in patients with craniosynostosis following posterior cranial distraction].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoEvaluating Sensory Restoration Following Surgical Intervention for Tethered Cord Syndrome: A Scoping Review and Illustrative Cases.
World neurosurgerySirenomelia in Twin IVF Pregnancy: A Rare Case Report.
Clinical case reportsEffective use of frequent enemas and abdominal care in a very-low-birth-weight infant with caudal regression syndrome.
Pediatrics international : official journal of the Japan Pediatric SocietyFirst report of aberrant Mystus vittatus (Bloch, 1794) from wild population in the Gomti River, Uttar Pradesh, India, based on integrative approach: a new conservation concern.
Environmental monitoring and assessmentImpinging and Overriding Spinous Processes in Horses: A Narrative Review.
Animals : an open access journal from MDPISpontaneous Unilateral Extracranial Internal Carotid Artery Dissection and Pseudoaneurysm Presenting as Complete Caudal Cranial Nerve Palsy.
Clinical case reportsSex-specific brain atrophy patterns associated with the motoric cognitive risk syndrome.
Journal of Alzheimer's disease : JADGeneration of two induced pluripotent stem cell lines from Lynch syndrome patients carrying heterozygous MLH1 mutations.
Stem cell researchCorrelation between neurogenic injury and lumbar disc degeneration in tethered cord syndrome: a retrospective MRI study based on somatosensory evoked potentials.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyAnalysis of cervical tracheal characteristics of obstructive sleep apnoea-hypopnoea syndrome patients using ultrasound.
Frontiers in medicineImaging Spectrum of Congenital Spinal Abnormalities: A Pictorial Review.
CureusLocalization and connections of the tail of caudate and caudal putamen in mouse brain.
Frontiers in neural circuitsEvaluation of a caudal midline glossectomy on tongue volume and upper airway cross-sectional areas in brachycephalic dogs: a cadaveric study.
Frontiers in veterinary scienceCase Report: Successful management of acute kidney injury following interventional heartworm extraction in a dog with caval syndrome.
Frontiers in veterinary scienceCaudal and Thalamic Segregation in White Matter Brain Network Communities in Alzheimer's Disease Population.
... IEEE-EMBS International Conference on Biomedical and Health Informatics. IEEE-EMBS International Conference on Biomedical and Health InformaticsPrenatal diagnosis of caudal regression syndrome with maternal diabetes mellitus via ultrasound: a case description.
Quantitative imaging in medicine and surgeryAnatomical and histological characterization of the filum terminale in dogs.
Frontiers in veterinary scienceSacral Agenesis Type II in a 12-Year-Old Patient: A Delayed Presentation in a Low-Resource Setting.
CureusBertolotti Syndrome: Surgical Treatment in a Middle-Aged Triathlete-A Case Report.
Healthcare (Basel, Switzerland)Minimally invasive full endoscopic resection of the anomalous transverse process in Bertolotti's syndrome: illustrative case.
Journal of neurosurgery. Case lessonsEnhanced Sutural Protraction: An Innovative Orthopedic Protocol for Midfacial Advancement in Growing Patients.
The Journal of craniofacial surgerySjögren's syndrome is associated with a reduction in the surface area of the right caudal anterior cingulate gyrus.
BMC medicineMetformin-improved cognitive impairment in patients with schizophrenia is correlated with activation of tricarboxylic acid cycle and restored functional connectivity of hippocampus.
BMC medicinePeripheral Nerve Stimulation for Occipital Neuralgia: A Parallel Approach.
Pain medicine case reportsWest Nile neuroinvasive disease with poliomyelitis syndrome: A grave phenomenon.
SAGE open medical case reportsWhite matter abnormalities of the frontal-striatal-thalamic circuit in individuals with attenuated positive symptom syndromes: a probabilistic tractography study.
Schizophrenia (Heidelberg, Germany)Neurosurgical management of a giant anterior sacral meningocele in a patient with combined Currarino syndrome and caudal duplication anomaly: illustrative case.
Journal of neurosurgery. Case lessonsAphallia in a patient with 9q34 duplication syndrome: a case report.
BMC urologyEndoscopically Assisted Release Surgery for Idiopathic Spinal Cord Herniation: Technical Case Instruction.
Operative neurosurgery (Hagerstown, Md.)Surgically Relevant Anatomy of Marfan Vertebrae.
Journal of pediatric orthopedicsBilateral Persistent Sciatic Veins: A Cadaveric Case Report.
The Kurume medical journalRare mutations implicate CGE interneurons as a vulnerable axis of cognitive deficits across psychiatric disorders.
bioRxiv : the preprint server for biologyLateral Medullary Infarction Presenting as Opalski Syndrome Associated with Headache Attributed to Orthostatic Hypotension.
Internal medicine (Tokyo, Japan)Lumbosacral (myelo) meningoceles in dogs, related tethered cord syndrome, and their surgical management: review of the literature and clinical experience.
Frontiers in veterinary scienceSubchronic and Acute Toxicity of 6PPD-Quinone to Early Life Stage Rainbow Trout (Oncorhynchus mykiss).
Environmental science & technologyEfficacy of spinal ultrasonography just before caudal epidural block for identifying tethered cord syndrome in urological cases with sacral dimples: a retrospective descriptive study.
Journal of anesthesiaRetrograde cervical insertion of spinal cord stimulator in persistent spinal pain syndrome type 2 in patient with fusion from sacrum to T10.
Pain practice : the official journal of World Institute of PainAltered functional connectivity and hyperactivity of the caudal hippocampus in schizophrenia compared with bipolar disorder: a resting state fMRI (functional magnetic resonance imaging) study.
BMC psychiatryPositive Evolution of a Child Suffering from Caudal Regression Syndrome and Agenesia Sacra After Treatment with Growth Hormone and Rehabilitation.
International journal of molecular sciencesA Case of Surgically Treated Adult Split Cord Malformation Type 2 with Tethered Cord Syndrome.
NMC case report journalThe Impact of Hypoalbuminemia on Outcomes in Non-Surgically Treated Patients With Central Cord Injury.
Global spine journalLesion network mapping of REM Sleep Behaviour Disorder.
NeuroImage. ClinicalPotentially zoonotic parasite arrives to continental France: Clinostomum complanatum (Trematoda: Digenea) infection in perch (Perca fluviatilis) from the Doubs River (Jura).
Folia parasitologicaA Novel Report of Müllerian (Vaginal/Uterine) Agenesis in a Newborn Girl With LUMBAR Syndrome.
Pediatric dermatologyIpsilateral Hemiparesis in Lateral Medullary Syndrome: A Case Report on Opalski's Syndrome.
CureusEvaluation of the effects of asymmetric lumbosacral transitional vertebra on pelvic morphology in dogs using ventrodorsal radiographs.
Acta veterinaria ScandinavicaInternal carotid artery dissection leading to occlusion in a patient with nonelongated styloid process: illustrative case.
Journal of neurosurgery. Case lessonsAlternative Deep Brain Stimulation Targets in the Treatment of Isolated Dystonic Syndromes: A Multicenter Experience-Based Survey.
Movement disorders clinical practiceAcute and Subchronic Toxicity of 6PPD-Quinone to Early Life Stage Lake Trout (Salvelinus namaycush).
Environmental science & technologyClinical features of FOSMN syndrome in Korea: A comparative analysis with bulbar-onset amyotrophic lateral sclerosis.
Journal of the neurological sciencesNeonatal caudal regression syndrome: Devil lies in details.
Medical journal, Armed Forces IndiaDorsolateral pontine lesions produce distinct ocular motor abnormalities with anatomical correlations.
European journal of neurologySelective midfacial neurectomy for postparalytic facial nerve syndrome.
Journal of plastic, reconstructive & aesthetic surgery : JPRASSirenomelia-Challenges and Treatment Approach in a Rare Case.
Birth defects researchA case of small intestinal fixation failure.
BJR case reports[Congenital porto-phrenico-pulmonary shunt in a cat].
Tierarztliche Praxis. Ausgabe K, Kleintiere/HeimtiereSpontaneous Intracranial Hypotension and Dural Ectasia in Marfan Syndrome: An Illustrative Case Successfully Treated with Steroid Therapy and Literature Review.
Brain sciencesDiagnosis and hybrid interventional and surgical removal of ectopic heartworms (Dirofilaria immitis) in a dog.
Journal of veterinary cardiology : the official journal of the European Society of Veterinary CardiologySternotomy and extracorporal circulation for fulminant Budd-Chiari syndrome due to leiomyosarcoma of the inferior vena cava.
Cardio-oncology (London, England)Repetitive muscle silent periods in acute post-anoxic brain injury: A novel phenotype of negative myoclonus.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyMandibular Periostitis Ossificans in a 17-Week-Old Male Great Dane.
Journal of veterinary dentistryRay-Resorption Syndrome in European Seabass, Dicentrarchus labrax (Linnaeus, 1758).
Journal of fish diseasesWall-Eyed Internuclear Ophthalmoplegia: History and Hypothesis.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesNeuroanatomical anomalies due to a defect in the FGF3 gene, associated with the Labyrinthine Aplasia, Microtia and Microdontia syndrome: insights from the placement of auditory brainstem implants in two siblings.
Therapeutic advances in rare diseaseGenome-wide screening reveals essential roles for HOX genes and imprinted genes during caudal neurogenesis of human embryonic stem cells.
Stem cell reportsA new technique of primary retroperitoneal approach for minimally invasive surgical treatment of cecal colon cancer with d3 lymph node dissection.
Techniques in coloproctologyPrenatal growth patterns of the upper jaw complex with implications for laryngeal echolocation in bats.
Journal of anatomyPediatric regional anesthesia and acute pain management: State of the art.
Best practice & research. Clinical anaesthesiologyAnalysis of Caudal Regression Syndrome: A Case Report From Bulgaria.
CureusA Comparison of Analgesic Efficacy of Triamcinolone vs Magnesium Sulfate as Adjuvants in Caudal Block in Patients with Low Back Pain: A Double-Blind Randomized Controlled Trial.
Anesthesiology and pain medicineCaudal regression syndrome with incidental brain tumor in a woman: A case report.
Radiology case reportsResolvin D4 mitigates lipopolysaccharide-induced lung injury in mice.
Prostaglandins, leukotrienes, and essential fatty acidsAltered Subcortical Brain Volume and Cortical Thickness Related to Insulin Resistance in Type 2 Diabetes Mellitus.
Brain and behaviorTowards a neurodevelopmental model of bipolar disorder: a critical review of trait- and state-related functional neuroimaging in adolescents and young adults.
Molecular psychiatryCasamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of the Second Case and Phenotypic Assessment.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyNon-functional alpha-cell hyperplasia with glucagon-producing NET: a case report.
Frontiers in endocrinologyOptimizing sacral screw fixation in patients with caudal regression syndrome.
Spine deformityEvaluation of Peripheral Neuropathy in Rat Models of Metabolic Syndrome and Diabetes Mellitus.
Bulletin of experimental biology and medicineCASE-CONTROL STUDY OF THE FREQUENCY AND ETIOLOGY OF ATAXIA IN ASIATIC LIONS (PANTHERA LEO PERSICA) BETWEEN 2002 AND 2020.
Journal of zoo and wildlife medicine : official publication of the American Association of Zoo VeterinariansThe impact of metabolic syndrome on the cerebral cortex: a Mendelian randomization study.
Cerebral cortex (New York, N.Y. : 1991)Laparoscopic resection for retroperitoneum ganglioneuroma with Supine hypotension syndrome.
Surgical case reportsNecrolytic migratory erythema caused by pancreatic hyperglycemia with emphasis on therapeutic and prognosis: A case report.
World journal of clinical casesPersistent Cloaca and Cloacal Variants in Males: Qualitative Review of a Neglected Anomaly.
Journal of Indian Association of Pediatric SurgeonsMedian Arcuate Ligament Syndrome: A Case Report on a Rare Disease and Variant Hepatic Arterial Anatomy.
CureusPrenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic.
Cerebellum (London, England)Early-onset palatal myoclonus in Wernekinck commissure syndrome secondary to caudal paramedian midbrain infarction: A case report and a mini review of the literature.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke AssociationIdentifying the genetic association between the cerebral cortex and fibromyalgia.
Cerebral cortex (New York, N.Y. : 1991)Pelvic congestion syndrome analysis through quantitative 2-dimensional phase-contrast MRI: a promising vision from an observational cohort study.
International journal of surgery (London, England)Caudal regression syndrome associated with obstructive genital tract anomaly.
BMJ case reportsUse of an autologous pericardial patch to repair a post-traumatic caudal vena cava cicatrix in a dog.
Veterinary surgery : VSA Case of Endoscopic Partial Transverse Process and Sacral Alar Resection for Bertolotti's Syndrome and Continued Basketball Playing Two Years After Surgery.
CureusFibrodysplasia Ossificans Progressiva: A Man Turned to Stone.
CureusRadiological and clinical aspect of Caudal regression syndrome associated with dorsal hemivertebra without maternal diabetes.
Radiology case reportsShort-term antipsychotic treatment reduces functional connectivity of the striatum in first-episode drug-naïve early-onset schizophrenia.
Schizophrenia researchDouble Trouble: A Case Report of Caudal Duplication Syndrome.
UrologyBeyond the Tailbone: A Family's Journey Through Caudal Regression Syndrome-A Triple Sibship.
Pediatric neurologyCaudal regression in fetus with de novo SMARCA2 pathogenic variant.
Prenatal diagnosisRe: Factors affecting clean intermittent catheterization compliance among children and adolescents with neurogenic bladder due to spina bifida and caudal regression syndrome.
Journal of pediatric urologyDeciphering the brain-gut axis: elucidating the link between cerebral cortex structures and functional gastrointestinal disorders via integrated Mendelian randomization.
Frontiers in neuroscienceCaudal Regression Syndrome First Diagnosed in Adulthood: A Case Report and a Review of the Literature.
Diagnostics (Basel, Switzerland)Wrongful birth and wrongful life lawsuits in obstetrics and gynecology.
American journal of obstetrics and gynecologyTargeting thalamocortical circuits for closed-loop stimulation in Lennox-Gastaut syndrome.
Brain communicationsClinical and radiological evaluation of caudal regression syndrome.
Pediatric radiologyTranslation of paclitaxel-induced peripheral neurotoxicity from mice to patients: the importance of model selection.
PainComparative Evaluation of Caudal Epidural Method to Ultrasound-Guided S1 Transforamen Block in Patient's Lumbar Discectomy with Failed Back Syndrome Symptoms: A Double-Blind Clinical Trial.
Anesthesiology and pain medicineSirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report.
Journal of medical case reportsMechanical Interactions Between the Upper Airway and the Lungs that Affect the Propensity to Obstructive Sleep Apnea in Health and Chronic Lung Disease.
Sleep medicine clinicsAberrant Dorsal Nerve Root as a Concomitant Cause of Spinal Cord Tethering Associated with a Dorsal Type Lipomyelomeningocele in a Child With Caudal Agenesis.
Nigerian journal of clinical practiceNeuroanatomical Correlates of Cognitive Dysfunction in 22q11.2 Deletion Syndrome.
GenesParaneoplastic hypercalcemia in a canine patient with a mandibular salivary carcinoma.
Journal of the American Veterinary Medical AssociationAnesthesia management for a child with the Koolen-de Vries syndrome: a case report.
BMC anesthesiologyNon-brachycephalic dogs with stertor have higher nasopharyngeal collapsibility compared with dogs without stertor and foramen lacerum level is ideal for evaluating nasopharyngeal collapse on dynamic CT.
Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology AssociationClosure of the neuro-central synchondrosis and other physes in foal cervical spines.
Equine veterinary journalCaudal duplication syndrome: A rare entity.
JPMA. The Journal of the Pakistan Medical AssociationReduced Cortical Thickness Correlates of Cognitive Dysfunction in Post-COVID-19 Condition: Insights from a Long-Term Follow-up.
AJNR. American journal of neuroradiologyLaser-Assisted Turbinectomy in Dogs.
The Veterinary clinics of North America. Small animal practiceDexmedetomidine Alleviates Propofol Infusion Syndrome-Induced Myocardial Injury through Inhibiting Ferroptosis Associated with Accumulation of Reactive Oxygen Species.
Annals of clinical and laboratory scienceSynaptic mechanisms underlying the elevated sympathetic outflow in fructose-induced hypertension.
Frontiers in physiologyMiddle cluneal nerve entrapment sites in the surgical field.
Acta neurochirurgicaTethered Spinal Cord Syndrome Discovered during Ultrasound-guided Caudal Block.
AnesthesiologyNausea and Vomiting as Initial Manifestations of Pediatric NMOSD.
PediatricsManagement of essential tremor deep brain stimulation-induced side effects.
Frontiers in human neuroscienceLUMBAR syndrome-OEIS complex overlap: A case series and review.
American journal of medical genetics. Part AStaging of progressive supranuclear palsy-Richardson syndrome using MRI brain charts for the human lifespan.
Brain communicationsDural ectasia with cauda equina syndrome, a rare case report.
International journal of surgery case reportsAssociation of spinal cord abnormalities with vertebral anomalies: an embryological perspective.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryFactors affecting clean intermittent catheterization compliance among children and adolescents with neurogenic bladder due to spina bifida and caudal regression syndrome.
Journal of pediatric urologyLong-term outcomes in sacral agenesis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryImaging spectrum of spinal dysraphism: A diagnostic challenge.
SA journal of radiologyBrain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.
Pediatric nephrology (Berlin, Germany)A 13-Year-Old Girl with Caudal Regression Syndrome and Distal Vaginal Atresia: A Case Report.
The American journal of case reportsThe role of atypical deglutition in children and adolescents with moderate to severe obstructive sleep apnea syndrome.
Journal of sleep researchEmphysematous pyometra and emphysematous hepatitis caused by Klebsiella pneumoniae infection in a diabetic dog.
Veterinary radiology & ultrasound : the official journal of the American College of Veterinary Radiology and the International Veterinary Radiology AssociationRisks Associated with Surgical Management of Lumbosacral Transitional Vertebrae: Systematic Review of Surgical Considerations and Illustrative Case.
World neurosurgeryDefective blastogenesis of postnatally diagnosed type VI sirenomelia in a young primigravida: A case report.
SAGE open medical case reportsSirenomelia: An anatomical assessment and genetic sex determination of two cases.
Journal of anatomyExploring graded profiles of hippocampal atrophy along the anterior-posterior axis in semantic dementia and Alzheimer's disease.
Neurobiology of agingAdrenalectomy for the treatment of hypotension in a cat with phaeochromocytoma associated with caudal vena cava syndrome.
The Journal of small animal practiceA rare case of fetal sirenomelia malformation in the third trimester with its ultrasound appearance and review of the literature.
International journal of surgery case reportsEffect of age on metabolomic changes in a model of paclitaxel-induced peripheral neurotoxicity.
Journal of the peripheral nervous system : JPNSMedian Arcuate Ligament and Origin of the Celiac Artery Proximity Change in Patients after Surgery to Correct Adult Spinal Deformity: Potential Risk Factors for Acute Celiac Artery Compression Syndrome.
Spine surgery and related researchSuccessful surgical correction of caudal duplication syndrome in a dog.
Journal of the American Veterinary Medical AssociationHyperbaric treatment deviations for U.S. Navy divers: Spinal DCS.
Undersea & hyperbaric medicine : journal of the Undersea and Hyperbaric Medical Society, IncRetrograde thoracic spinal cord stimulation paddle placement for complex persistent spinal pain syndrome type 2.
Pain practice : the official journal of World Institute of PainSirenomelia in Twin Pregnancy: A Case Report.
CureusPrenatal sirenomelia diagnosis in the first trimester: A case report and literature review.
Clinical case reportsCaudal regression syndrome type 1 with minimally invasive computed tomography and magnetic resonance imaging autopsy: a case report.
Journal of medical case reportsAssociation of Tarlov cyst with cauda equina syndrome and spinal cord infarction following caudal epidural block: A case report.
MedicineROI-based analysis of diffusion indices in healthy subjects and subjects with deficit or non-deficit syndrome schizophrenia.
Psychiatry research. NeuroimagingSacral agenesis without maternal diabetes: a case report.
Annals of medicine and surgery (2012)Simultaneous second-stage Fowler-Stephens Orchiopexy and microvascular testicular autotransplantation in a patient with prune belly syndrome with cryptorchidism.
Journal of surgical case reportsMonocular Torsional Oscillopsia in Dentato-olivary Disconnection.
Cerebellum (London, England)Major complications of caudal block: A prospective survey of 973 cases in adult anorectal surgery.
HeliyonMillard-Gubler Syndrome due to Parenchymal Neuro-Behcet's Syndrome Lesion: a Rare Case Report.
Acta neurologica TaiwanicaClinico- Radiological Profile and Outcome of Isolated Paramedian Hemipontine Infarcts.
Acta neurologica TaiwanicaEfficacy of epidural infiltration in the management of pain and disability due to acute and subacute lumbosacral radiculopathy.
NeurocirugiaSurgical technique of spine-shortening vertebral osteotomy for adult tethered cord syndrome: a case report and review of the literature.
Journal of medical case reportsNovel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.
Cold Spring Harbor molecular case studiesAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome de apêndice caudal-surdez.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Síndrome de apêndice caudal-surdez
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- A rare case of caval foramen hernia involving the small intestines and hepatic lobes in a dog.
- Management of an infant with prune belly syndrome under caudal anaesthesia undergoing laparoscopic surgery.
- Sacral dimple: clinical perspectives of lesions hidden beneath the skin.
- [Ultrasound-Guided Injection of the Thoracolumbar Fascia in the Treatment of Low Back Pain: Methodological Approach and Anatomical Study].
- Clinical Diversity in Currarino Syndrome: Insights From Monozygotic Twins and a Single-Center Retrospective Study.
- A Novel Report of Müllerian (Vaginal/Uterine) Agenesis in a Newborn Girl With LUMBAR Syndrome.
- Ray-Resorption Syndrome in European Seabass, Dicentrarchus labrax (Linnaeus, 1758).
- Early-onset palatal myoclonus in Wernekinck commissure syndrome secondary to caudal paramedian midbrain infarction: A case report and a mini review of the literature.
- Pelvic congestion syndrome analysis through quantitative 2-dimensional phase-contrast MRI: a promising vision from an observational cohort study.
- Caudal regression syndrome associated with obstructive genital tract anomaly.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1123(Orphanet)
- MONDO:0015233(MONDO)
- GARD:1163(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55785347(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