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Lower limbs deformities in patients with McCune-Albright syndrome: Tomography and treatment.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Dolicho-odontoid in a boy with pseudoachondroplasia.
- Published in:
- European Journal of Orthopaedic Surgery & Traumatology, 2008, v. 18, n. 4, p. 297, doi. 10.1007/s00590-008-0303-z
- By:
- Publication type:
- Article
Bilateral and Symmetrical Anteromedial Bowing of the Lower Limbs in a Patient with Neurofibromatosis Type-I.
- Published in:
- Case Reports in Orthopedics, 2015, v. 2015, p. 1, doi. 10.1155/2015/425970
- By:
- Publication type:
- Article
Swellings over the Limbs as the Earliest Feature in a Patient with Osteogenesis Imperfecta Type V.
- Published in:
- Case Reports in Orthopedics, 2014, p. 1, doi. 10.1155/2014/780959
- By:
- Publication type:
- Article
Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography.
- Published in:
- Case Reports in Orthopedics, 2014, p. 1, doi. 10.1155/2014/186973
- By:
- Publication type:
- Article
Spinal Exostosis in a Boy with Multiple Hereditary Exostoses.
- Published in:
- Case Reports in Orthopedics, 2013, p. 1, doi. 10.1155/2013/758168
- By:
- Publication type:
- Article
Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome.
- Published in:
- Scoliosis (17487161), 2006, v. 1, p. 15, doi. 10.1186/1748-7161-1-15
- By:
- Publication type:
- Article
Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2007, v. 2, p. 2, doi. 10.1186/1750-1172-2-2
- By:
- Publication type:
- Article
Varus deformity of the left lower extremity causing degenerative lesion of the posterior horn of the left medial meniscus in a patient with Paget's disease of bone.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Spinal and extraspinal deformities in a patient with dysspondyloenchondromatosis.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Arthrogrypotic Syndrome is the Usual Misnomer in Children with Du Pan Syndrome.
- Published in:
- American Journal of Biomedical Sciences, 2020, v. 12, n. 2, p. 91, doi. 10.5099/aj200200091
- By:
- Publication type:
- Article
A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2338, doi. 10.1002/ajmg.a.36614
- By:
- Publication type:
- Article
Coxa Vara in Conjunction with Metaphyseal Dysostosis.
- Published in:
- Journal of the College of Physicians & Surgeons Pakistan, 2012, v. 22, n. 7, p. 466
- By:
- Publication type:
- Article
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 3, p. 197, doi. 10.1038/ng.757
- By:
- Publication type:
- Article
Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment.
- Published in:
- European Spine Journal, 2015, v. 24, n. 3, p. 594, doi. 10.1007/s00586-014-3204-3
- By:
- Publication type:
- Article
The aetiology behind torticollis and variable spine defects in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis.
- Published in:
- European Spine Journal, 2011, v. 20, n. 10, p. 1720, doi. 10.1007/s00586-011-1835-1
- By:
- Publication type:
- Article
Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Muscle Weakness: A Misleading Presentation in Children With Distinctive Syndromic Entities (Clinical Case Reports).
- Published in:
- Journal of Investigative Medicine High Impact Case Reports, 2017, v. 5, n. 1, p. 1, doi. 10.1177/2324709616689583
- By:
- Publication type:
- Article
Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.
- Published in:
- Orthopaedic Surgery, 2018, v. 10, n. 3, p. 241, doi. 10.1111/os.12382
- By:
- Publication type:
- Article
Reconstruction of Limb Deformities in Patients with Thrombocytopenia-absent Radius Syndrome.
- Published in:
- Orthopaedic Surgery, 2015, v. 7, n. 1, p. 50, doi. 10.1111/os.12157
- By:
- Publication type:
- Article
Corrections of Lower Limb Deformities in Patients with Diastrophic Dysplasia.
- Published in:
- Orthopaedic Surgery, 2014, v. 6, n. 4, p. 274, doi. 10.1111/os.12146
- By:
- Publication type:
- Article
Is Webbing (Pterygia) a Constant Feature in Patients with Escobar Syndrome?
- Published in:
- Orthopaedic Surgery, 2013, v. 5, n. 4, p. 297, doi. 10.1111/os.12064
- By:
- Publication type:
- Article
Re-alignment-procedures for Skeletal Dysplasia in Three Patients with Genetically Diverse Syndromes.
- Published in:
- Orthopaedic Surgery, 2013, v. 5, n. 1, p. 33, doi. 10.1111/os.12023
- By:
- Publication type:
- Article
Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia.
- Published in:
- Clinical Rheumatology, 2020, v. 39, n. 2, p. 553, doi. 10.1007/s10067-019-04783-z
- By:
- Publication type:
- Article
Progressive anterior knee pain associated with patellar instability in a 57-year-old father and his daughter.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Atlanto-axial segmentation defects and os odontoideum in two male siblings with opsismodysplasia.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome.
- Published in:
- Case Reports in Orthopedics, 2020, p. 1, doi. 10.1155/2020/8747392
- By:
- Publication type:
- Article
Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome.
- Published in:
- Clinical Medicine Insights: Arthritis & Musculoskeletal Disorders, 2013, n. 6, p. 1, doi. 10.4137/CMAMD.S10279
- By:
- Publication type:
- Article
Radiographic and Tomographic Study of the Cranial Bones in Children with the Idiopathic Type of West Syndrome.
- Published in:
- Pediatric Reports, 2024, v. 16, n. 2, p. 410, doi. 10.3390/pediatric16020035
- By:
- Publication type:
- Article
Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia.
- Published in:
- Children, 2023, v. 10, n. 10, p. 1715, doi. 10.3390/children10101715
- By:
- Publication type:
- Article
Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives.
- Published in:
- Children, 2023, v. 10, n. 7, p. 1240, doi. 10.3390/children10071240
- By:
- Publication type:
- Article
Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II.
- Published in:
- Clinical Case Reports, 2015, v. 3, n. 9, p. 762, doi. 10.1002/ccr3.317
- By:
- Publication type:
- Article
Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 4, p. 491, doi. 10.1111/cge.14381
- By:
- Publication type:
- Article
Infantile systemic hyalinosis: Variable grades of severity.
- Published in:
- 2021
- By:
- Publication type:
- journal article
A constellation of orthopaedic deformities in connection with cartilage oligomeric matrix protein mutation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome).
- Published in:
- 2016
- By:
- Publication type:
- journal article
Correction of the axial and appendicular deformities in a patient with Silver-Russel syndrome.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Spinal and pelvic corrections in a patient with spondylocostal dysplasia syndrome and hemimyelomeningocele.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article.
- Published in:
- Journal of Investigative Medicine High Impact Case Reports, 2020, v. 8, p. 1, doi. 10.1177/2324709620911771
- By:
- Publication type:
- Article
Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article.
- Published in:
- Journal of Investigative Medicine High Impact Case Reports, 2020, v. 8, n. 1, p. 1, doi. 10.1177/2324709620911771
- By:
- Publication type:
- Article
The Tomographic Study and the Phenotype of Wormian Bones.
- Published in:
- Diagnostics (2075-4418), 2023, v. 13, n. 5, p. 874, doi. 10.3390/diagnostics13050874
- By:
- Publication type:
- Article
Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 10, p. 2375, doi. 10.3390/diagnostics12102375
- By:
- Publication type:
- Article
Torticollis in Connection with Spine Phenotype.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 7, p. N.PAG, doi. 10.3390/diagnostics12071672
- By:
- Publication type:
- Article
Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome.
- Published in:
- Calcified Tissue International, 2021, v. 109, n. 5, p. 586, doi. 10.1007/s00223-021-00862-z
- By:
- Publication type:
- Article
Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example.
- Published in:
- Minerva Pediatrics, 2024, v. 76, n. 1, p. 30, doi. 10.23736/S2724-5276.20.05796-5
- By:
- Publication type:
- Article
The articular and the craniocervical abnormalities are of confusing age of onset in patients with Maroteaux-Lamy disease (MPS VI).
- Published in:
- Minerva Pediatrics, 2023, v. 75, n. 2, p. 243, doi. 10.23736/S2724-5276.20.05645-5
- By:
- Publication type:
- Article
Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis.
- Published in:
- BMC Musculoskeletal Disorders, 2006, v. 7, p. 94, doi. 10.1186/1471-2474-7-94
- By:
- Publication type:
- Article