All Stories

  1. A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma
  2. Muscle Weakness
  3. Progressive Collapse of the Thoracic Cage
  4. The Diversity of the Clinical Phenotypes in Patients With Fibrodysplasia Ossificans Progressiva
  5. Progressive non-infectious anterior vertebral fusion in a baby with Saethre-Chotzen-acrocephalosyndactyly type III syndrome
  6. Extended phenotypes in a boy and his mother with oto‐palato‐digital‐syndrome type II
  7. Reconstruction of Limb Deformities in Patients with Thrombocytopenia-absent Radius Syndrome
  8. Correction of the axial and appendicular deformities in a patient with Silver-Russel syndrome
  9. Bilateral and Symmetrical Anteromedial Bowing of the Lower Limbs in a Patient with Neurofibromatosis Type-I
  10. Corrections of Lower Limb Deformities in Patients with Diastrophic Dysplasia
  11. A child with split-hand/foot associated with tibial hemimelia (SHFLD syndrome) and thrombocytopenia maps to chromosome region 17p13.3
  12. Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment
  13. Spinal and pelvic corrections in a patient with spondylocostal dysplasia syndrome and hemimyelomeningocele
  14. Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter
  15. Swellings over the Limbs as the Earliest Feature in a Patient with Osteogenesis Imperfecta Type V
  16. Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype
  17. Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography
  18. Windswept lower limb deformities in patients with hypophosphataemic rickets
  19. Is Webbing (Pterygia) a Constant Feature in Patients with Escobar Syndrome?
  20. Hüftdysplasie und Morbus Scheuermann bei einem Mädchen mit Typ-II-Kollagenopathie
  21. Broad Spectrum of Skeletal Malformation Complex in Patients with Cleidocranial Dysplasia Syndrome: Radiographic and Tomographic Study
  22. Treatment of Varus Deformities of the Lower Limbs in Patients with Achondroplasia and Hypochondroplasia
  23. Re‐alignment‐procedures for Skeletal Dysplasia in Three Patients with Genetically Diverse Syndromes
  24. Premature Osteoarthritis as Presenting Sign of Type II Collagenopathy: A Case Report and Literature Review
  25. Spinal Exostosis in a Boy with Multiple Hereditary Exostoses
  26. Radiographic and Tomographic Analysis in Patients with Stickler Syndrome Type I
  27. Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome
  28. Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV)
  29. Axial correction of the lower limb deformities in a girl with anauxetic dysplasia
  30. Windswept deformity in a patient with Schwartz-Jampel syndrome
  31. The diagnosis and management of patients with idiopathic osteolysis
  32. Facial dysmorphism associated with distinctive spine abnormalities in a girl and her mother
  33. The aetiology behind torticollis and variable spine defects in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis
  34. Extra phenotypic features in a girl with Miller syndrome
  35. Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome
  36. The management of knee dislocation in a child with Larsen syndrome
  37. Progressive anterior knee pain associated with patellar instability in a 57-year-old father and his daughter
  38. Progressive anterior knee pain associated with patellar instability in a 57-year-old father and his daughter
  39. Tomographic assessment of the spine in children with spondylocostal dysotosis syndrome
  40. Distinctive tomographic abnormalities of the craniocervical region in a patient with osteogensis imperfecta type IV B
  41. Evidence of Reduced Bone Turnover and Disturbed Mineralization Process in a Boy with Stickler Syndrome
  42. Severe peripheral dysostosis in a girl with phenotypic features suggestive for acrodysostosis syndrome: a case report and review of the literature
  43. Novel mutation in the carboxyl-terminal propeptide of the procollagen α1(I) chain in a girl with prenatal cortical hyperostosis and multiple fractures
  44. Early senile ankylosing vertebral hyperostosis in paediatric patients; A novel spine malformation
  45. Distinctive tomographic features of atlantoaxial dislocation in a boy with acromesomelic dysplasia du Pan syndrome
  46. Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association
  47. Osteochondritis dissecans and Osgood Schlatter disease in a family with Stickler syndrome
  48. Occipito-vertebral dissociation in connection with extensive cervical spine malsegmentation in a boy with möbius syndrome
  49. Significant traumatic atrophy of the spinal cord in connection with severe cervical vertebral body hypoplasia in a boy with Larsen syndrome: a case report and review of the literature
  50. Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature
  51. Professional awareness is needed to distinguish between child physical abuse from other disorders that can mimic signs of abuse (Skull base sclerosis in infant manifesting features of infantile cortical hyperostosis): a case report and review of the li...
  52. Atlanto-axial segmentation defects and os odontoideum in two male siblings with opsismodysplasia
  53. Caudal regression syndrome and popliteal webbing in connection with maternal diabetes mellitus: a case report and literature review
  54. Progressive acetabular dysplasia in a boy with mucopolysaccharoidosis type IV A (Morquio syndrome): a case report
  55. Outward bulging of the right parietal bone in connection with fibrous dysplasia in an infant: a case report
  56. Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report
  57. Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedmann syndrome in a male infant
  58. Progressive joint limitations as the first alarming signs in a boy with short – limbed dwarfism: A case report
  59. Femoral-tibial-synostosis in a child with Roberts syndrome (Pseudothalidomide): a case report
  60. Diffuse Skull Base/Cervical Fusion Syndromes in Two Siblings With Spondylocostal Dysostosis Syndrome
  61. Persistent cloaca associated with a duplicated left leg: a novel disorganization-like syndrome
  62. A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome
  63. Dolicho-odontoid in a boy with pseudoachondroplasia
  64. Progressive noninfectious anterior vertebral fusion in a girl with axial mesodermal dysplasia spectrum
  65. A patient with Melorheostosis manifesting with features similar to tricho-dento-osseous syndrome: a case report
  66. Arthrogryposis multiplex congenita in connection with pre/postnatal extensive skull base sclerosis in a child manifesting radiographic/ tomographic features resembling dysosteosclerosis: a case report
  67. A novel malformation complex of bilateral and symmetric preaxial radial ray-thumb aplasia and lower limb defects with minimal facial dysmorphic features: a case report and literature review
  68. Ball and socket ankle joint in connection with bilateral tarsal synostosis in a boy with congenital absence of the portal vain: a novel malformation complex
  69. Achondroplasia manifesting as enchondromatosis and ossification of the spinal ligaments: a case report
  70. Ischiopubic and odontoid synchondrosis in a boy with progressive pseudorheumatoid chondrodysplasia
  71. Progressive vertebral fusion in a girl with spinal enchondromatosis
  72. Unusual facies, thumb hypoplasia, distinctive spinal fusions and extraspinal mobility limitation, in a pair of monozygotic twins
  73. Robinow syndrome: Report of two cases and review of the literature
  74. Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects
  75. Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity?
  76. Vertebral hyperostosis, ankylosed vertebral fracture and atlantoaxial rotatory subluxation in an elderly patient with a history of infantile idiopathic scoliosis; a case report
  77. Distinctive spinal changes in two patients with unusual forms of autosomal dominant endosteal hyperostosis: a case series
  78. Case Report- Massive spinal-ischial dysplasia and extensive spinal dyssygmentation in a Tunisian child with severe form of Cleido-cranial dysplasia
  79. A novel form of ischio-vertebral syndrome
  80. Craniovertebral malformation complex in a child with Weismann-Netter-Stuhl syndrome
  81. Complexo de malformação craniovertebral em uma criança com síndrome de Weismann-Netter-Stuhl
  82. Progressive Congenital Torticollis in VATER Association Syndrome
  83. Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia
  84. Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity
  85. A novel syndrome resembling Desbuquois dysplasia
  86. Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar)
  87. Hypohidrotic ectodermal dysplasia with tibial aplasia