Disease: Jarcho-Levin syndrome
- A case report of Jarcho-Levin syndrome
- A Cryptic Cause of Cardiac Arrest
- A fetus diagnosed with Casamassima-Morton-Nance syndrome with de novo del(8)(p23.1)
- A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas
- A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho-Levin Syndrome
- An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis
- Anaesthesia for infant with Jarcho Levin syndrome: case report
- Anaesthesia for infant with Jarcho Levin syndrome: case report
- Anaesthetic considerations in a parturient with Jarcho-Levin syndrome
- Anaesthetic management of a parturient with spondylothoracic dysostosis
- Anaesthetic management of a patient with Jarcho-Levin syndrome
- Anesthetic Challenges and Management in a case of Jarcho-Levin Syndrome with a Neural Tube Defect in a Newborn
- Anesthetic considerations in the perioperative management of the patient with Jarcho-Levin Syndrome
- Assessment of MRI and Ultrasound Screening for Tethered Cord Syndrome in Patients Diagnosed With Esophageal Atresia/Tracheoesophageal Fistula
- Association of spinal cord abnormalities with vertebral anomalies: an embryological perspective
- Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6
- Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis
- Bi-allelic loss of function variants of <em>TBX6</em> causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis
- Bladder Agenesis Associated with Crossed Fused Renal Ectopia and Vertebral Anomalies: A Rare Entity
- Case of split notochord syndrome: a neonate with thoracic neuroenteric cyst, abdominal duodenal duplication cyst, malrotation and vertebral anomalies
- Cervicothoracic Spinal Dysraphism: Unravelling the Pandora's Box
- Chest Wall Deformities
- Chest wall hypoplasia--principles and treatment
- Clinical and molecular delineation of spondylocostal dysostosis type 3
- Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome)
- Clinicoradiological correlation of scoliosis in children with Jarcho-Levin and Escobar syndromes: associated "flat bone or wing-like" imaging findings
- Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia
- Congenital hemangioma in spondylocostal dysostosis: a novel association
- Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity
- Differentiating between Traumatic Pathology and Congenital Variant: A Case Report of Butterfly Vertebra
- Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2
- Etiology and genetic factors in clefts of lip and/or palate reported at children's hospital, Lahore, Pakistan
- Expansion Thoracoplasty for Thoracic Insufficiency Syndrome Associated with Jarcho-Levin Syndrome
- FETAL INGUINAL HERNIA - CASE REPORT AND REVIEW OF THE LITERATURE
- Fetal Inguinal Hernia: Case Report and Review of the Literature
- Further description of two patients with biallelic variants in NADSYN1 in association with cardiac and vertebral anomalies
- Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan
- High-flow nasal cannula therapy in a case of spondylocostal dysostosis type 2
- Homozygous DMRT2 variant associates with severe rib malformations in a newborn
- Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review
- Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3
- Identification of novel LFNG mutations in spondylocostal dysostosis
- Increasing Prevalence and High Risk of Associated Anomalies in Congenital Vertebral Defects: A Population-based Study
- Iniencephaly clausus: A case report with review of literature
- Integrative analysis of Lunatic Fringe variants associated with spondylocostal dysostosis type-III
- Jarcho-Levin and Rokitansky syndromes. An excepcional association
- Jarcho-Levin Syndrome and Concomitant Carotid Glomus Tumor: First Reported Case
- Jarcho-Levin syndrome associated with maternal hypothyroidism
- Jarcho-Levin syndrome presenting with severe hydrocephalus: a report of three cases
- Jarcho-Levin syndrome with association of unilateral pulmonary hypoplasia and diastometamyelia: A case illustration
- Jarcho-Levin syndrome with diastematomyelia and a dorsal dermal sinus
- Jarcho-Levin syndrome with diastematomyelia: A case report and review of literature
- Jarcho-Levin Syndrome with Splenic Herniation: A Rare Presentation
- Jarcho-Levin syndrome: a rare syndrome presented with asymptomatic cardiac murmur
- Jarcho-Levin Syndrome: Two Consecutive Cases in the Same Family
- Lethal progressive thoracic insufficiency in a neonate due to jarcho levin syndrome
- Lipomeningomyelocele with Fatty Filum Terminale in a Patient with Jarcho-Levin Syndrome: A Rare Association Requiring Special Attention
- Long-Term Follow-up of Untreated Adult Patients with Spondylothoracic Dysostosis (Jarcho-Levin Syndrome)
- Management of thoracic insufficiency syndrome in patients with Jarcho-Levin syndrome using VEPTRs (vertical expandable prosthetic titanium ribs)
- Maternal Risk Factors for Congenital Vertebral Anomalies: A Population-Based Study
- Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants
- Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus
- Natural history of KBG syndrome in a large European cohort
- Neural tube defects in Jarcho-Levin syndrome: study of twenty-eight cases
- Neurosurgical management of a large meningocele in Jarcho-Levin syndrome: clinical and radiological pearls
- New insights in the prevalence of scoliosis and musculoskeletal asymmetries in adolescents with esophageal atresia
- Normal and abnormal spine and thoracic cage development
- Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis
- Notch signaling in human development and disease
- Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat
- Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients
- Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center
- Prenatal diagnosis of split cord malformation by ultrasound and fetal magnetic resonance imaging: case report and review of the literature
- Radiologic Examination of High Riding Vertebral Artery and Analysis of Secure Areas
- Rare association of spondylo costal dysostosis with split cord malformations type II: A case report and a brief review of literature
- Recapitulating the human segmentation clock with pluripotent stem cells
- Role of urodynamics in male patients of high-anorectal malformations: a prospective study
- Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis
- Spinal and pelvic corrections in a patient with spondylocostal dysplasia syndrome and hemimyelomeningocele
- Spondylocostal Dysostosis (Jarcho Levin Syndrome)
- Spondylocostal Dysostosis (Jarcho-Levin Syndrome) in an Adult Patient with Consanguineous Parents, in Long-Term Follow-Up
- Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature
- Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report
- Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature
- Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm
- Spondylocostal dysostosis with type II split cord malformation: A report of a rare case and brief review of the literature
- Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report
- Spondylothoracic Dysostosis: Crab-like Rib Cage Configuration in a Jarcho-Levin Syndrome Neonate
- Sporadic occurrence of jarcho-levin syndrome in an ivorian newborn
- Sprengel's deformity and spinal dysraphism: connecting the shoulder and the spine
- Ten year follow-up of Jarcho-Levin syndrome with thoracic insufficiency treated by VEPTR and MCGR VEPTR hybrid
- The developmental biology of genetic Notch disorders
- The outcome of Jarcho-Levin syndrome treated with a functional latissimus dorsi flap - A series of three cases
- Thoracic insufficiency syndrome: Approaches to assessment and management
- Three-dimensional computed tomography of fetal spondylothoracic dysostosis at 23 weeks' gestation
- Urinary bladder neck diverticular stone in patient with multiple congenital anomaly (<em>Jarcho-Levin syndrome</em>)
- Urinary bladder neck diverticular stone in patient with multiple congenital anomaly (Jarcho-Levin syndrome)
- VEPTR to treat nonsyndromic congenital scoliosis: a multicenter, mid-term follow-up study
- Vertebral Anomalies in Microtia Patients at a Tertiary Pediatric Care Center
- Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis