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Radiological approach to Congenital skeletal dysplasia
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Radiological approach to Congenital skeletal dysplasia



Published in Health & Medicine
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  • very valuable presentation. thank you. can i get a copy for teaching purpose. thanks again . gamal aladl. (
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  • 1. Ref:1. Amaka C. Offiah, Christine M. Hall et al. Radiological diagnosis of the constitutional disorders of bone, Pediatr Radiol (2003)33: 153–161.2. Manjiri Dighe Fetal Skeletal Dysplasia: An Approach to Diagnosis with Illustrative Cases, RG , Volume 28, Number 4, 1061-773. Parilla et al. Antenatal Detection of Skeletal Dysplasias J Ultrasound Med 22:255–258, 2003. By Dr Sachin
  • 2. Definitions Osteochondrodysplasias:- Abnormalities of bone and/or cartilage growth- Because of abnormal gene expression, phenotypes continue to evolve throughout lifespan Dysostoses :- Altered blastogenesis in first 6 weeks of IU life- Phenotype fixed
  • 3.  International Classification of Osteochondrodysplasias, published in 2002 Classified-1. Osteochondrodysplasias - 33 groups (Groups 1–33)2. Dysostoses – 3 (Groups A–C)- A - predominantly craniofacial involvement- B - predominant axial involvement- C - predominant involvement of hands & feet
  • 4. Imaging Approach : Antenatal US Long Bones:- Long bones lengths- Absence and malformation- Hypoplasia : Rhizomelia, Mesomelia, Rhizo- mesomelia, Acromelia- Curvature, degree of mineralization, and fractures- The femur length–abdominal circumference ratio (<0.16 - lethal outcome)- Femur length–foot length ratio (normal = 1, <1 suggests skeletal dysplasia/Trisomy
  • 5. Chest Chest–trunk length ratio less than 0.32 Femur length–abdominal circumference ratio less than 0.16 Hypoplastic thorax occurs in – lethal dysplasia, e.g. thanatophoric dysplasia, achondrogenesis, osteogenesis imperfecta.
  • 6. Hands and Feet Pre- or postaxial polydactyly Syndactyly Clinodactyly
  • 7. Skull Shape, mineralization, and degree of ossification Interorbital distance measured to exclude hyper- or hypotelorism
  • 8. Spine and Pelvis Platyspondyly
  • 9. Imaging Approach : Post-natal Skeletal Survey  AP and lateral skull to include the atlas and axis  AP chest  AP pelvis  AP lumbar spine  Lateral thoracolumbar spine  AP one lower limb  AP one upper limb  Postero-anterior (PA) one hand (usually left for bone age assessment)
  • 10. Modifications In preterm fetuses and stillbirths, babygram i.e. two anteroposterior (AP) and lateral films from head to foot Cone down views as required Imaging of other family members suspected of having same condition
  • 11. What to look for? A – Anatomical localisation B – Bones C – Complications D – Dead/alive
  • 12. A- Anatomical site Cleidocranial dysplasia, ischiopubicpatella syndrome Spondyloepimetaphyseal dysplasia (tarda or congenita) Metaphyseal chondrodysplasia
  • 13. B – Bones Structure Shape Size Sum Soft tissues
  • 14. Structure Bone density Exostoses and enchondromas Metaphyseal striations- osteopathia striata Bone islands e.g. osteopoikilosis
  • 15. Shape Metaphyses – flared Epiphyses- stippled or cone-shaped Platyspondyly Hooked vertebral bodies as in mucopolysaccharidoses Posterior scalloping of vertebral bodies as in neurofibromatosis and achondroplasia Sloping acetabular roofs as in mucopolysaccharidoses Horizontal trident acetabular roofs seen as in achondroplasia Trident of the hands in achondroplasia
  • 16. Flared Metaphyses Stippled Epiphyses Hooked vertebral bodies
  • 17. Size Short, long, large, broad or hypoplasticSum Too many, too few, or fusedComplications Fractures e.g. osteogenesis imperfecta Atlantoaxial subluxation as in mucopolysaccharidosis Progressive scoliosis Limb length discrepancies as in Epiphyseal stippling, dysplasia epiphysealis Malignancy e.g in Multiple cartilaginous exostoses and Maffucci’ s syndrome
  • 18. Fractures Atlantoaxial instability
  • 19. Group 1 (Achondroplasia group)Achondroplasia :- Bullet-shaped’ vertebral bodies- Decrease in interpedicular distance in lumbar spine caudally- Flat acetabular roofs- Short wide tubular bones- Large skull vault, relatively short base & Small foramen magnum- Relative overgrowth of fibula
  • 20. Group 1  Thanatophoric dysplasia - Most common lethal neonatal skeletal dysplasia - Short ribs with wide costochondral junctions - Severe platyspondyly - ‘telephone receiver femora’ - ‘clover leaf skull’ - Short broad tubular bones in the hands feet
  • 21. Group 3 (Metatropic Dysplasia Group) Short tubular bones with marked metaphyseal widening (dumb- bell) Platyspondyly, Prog ressive kyphoscoliosis Large intervertebral discs Flat acetabular roofs
  • 22. Group 4/Asphyxiating thoracic dysplasia •Small thorax with short ribs, horizontall y orientated •Horizontal acetabula with medial and lateral ‘spurs’ (trident)Asphyxiating thoracic dysplasia
  • 23. Group 4 Ellis–van Creveld (chondroecto dermal dysplasia)
  • 24. Group 8 (Type II Collagenopathies)  Spondyloepiphyseal dysplasia congenita & Tarda Characteristic mound of bone in central and posterior part of the vertebral end plates
  • 25. Group 11 (Multiple Epiphyseal Dysplasias And Pseudoachondroplasia Short limbs with normal head and face Platyspondyly with tongue-like anterior protrusion of the vertebral bodies Biconvex configuration of vertebral end plates Irregular metaphyses
  • 26. Group 12 (ChondrodysplasiaPunctata/Stippled Epiphyses)  Stippled calcification in cartilage, parti cularly around the joints and in laryngeal and tracheal cartilages
  • 27. Group 13 (Metaphyseal Dysplasias) Metaphyseal chondrodysplasia (Schmid)- Metaphyseal flaring- Increased density and unevenness of metaphyses, part icularly of upper femora and around knees
  • 28. Group 19 (Dysplasias With PredominantMembranous Bone Involvement)  Cleidocranial dysplasia
  • 29. Group 22 (Dysostosis Multiplex) Mucopolysaccharid oses- Macrocephaly- Thick vault with ‘ground-glass capacity’- ‘J’-shaped sella- Ovoid, hook- shaped vertebral bodies with thoracolumbar gibbus
  • 30. Morquios Syndrome (MPS-IV) Normal intelligence Absent odontoid peg Platyspondyly Progressive disappearance of femoral capital epiphyses
  • 31. Group 24 (Dysplasias With Decreased Bone Density)  Osteogenesis imperfecta - a group of conditions sec. to abnormality of Type 1 collagen - Type I-IV - Most severe Type II & III - Mildest Type I
  • 32.  Wormian bones Basilar invagination Hyperplastic callus Severe protrusio acetabuli ‘Codfish’ vertebral bodies ‘Tam OShanter’ appearance
  • 33. Group 26 (Increased Bone DensityWithout Modification Of Bone Shape) Osteopetrosis- Generalized increase in skeletal density- Alternating bands of radiolucency and sclerosis
  • 34.  Osteopoikilosis- Sclerotic foci (islands), around pelvis and metaphyses of long bones
  • 35. Group 31 (Disorganized Development Of Cartilaginous And Fibrous Components Of The Skeleton)  Multiple cartilaginous exostoses - Multiple flat or protuberant exostoses - Short ulna distally (reverse Madelung deformity)
  • 36. Diaphysial Aclasis
  • 37.  Enchondrom atoses (Olliers disease/ Maffuci syndrome)- Expansion of the bone with cortical thinning- Areas of calcification within the lesions
  • 38.  Fibrous dysplasia- Skull - asymmetrical thickening of the vault with sclerosis at base: multiple rounded areas of radiolucency- Obliteration of the paranasal air sinuses- Obliteration of the paranasal air sinuses- ‘Ground-glass’ areas in alteration with patchy sclerosis and expansion- Cortical thinning and endosteal scalloping
  • 39. Radiological Electronic Atlas Of Malformation SyndromesAnd Skeletal Dysplasias (REAMS) An electronic atlas, drawn from the extensive collection and expertise of Great Ormond Street Hospital, for Children, UK Provides over 6000 images covering more than 200 conditions Helps in searching, cross-referencing or sorting by condition, body part, radiological findings, radiological view and age
  • 40. THANK YOU.