Ref:1. Amaka C. Offiah, Christine M. Hall et al. Radiological diagnosis   of the constitutional disorders of bone, Pediatr...
Definitions Osteochondrodysplasias:- Abnormalities of bone and/or cartilage  growth- Because of abnormal gene  expression...
 International Classification of Osteochondrodysplasias, published in 2002 Classified-1. Osteochondrodysplasias - 33 gro...
Imaging Approach : Antenatal US Long Bones:- Long bones lengths- Absence and malformation- Hypoplasia :  Rhizomelia, Meso...
Chest Chest–trunk length ratio less than 0.32 Femur length–abdominal circumference  ratio less than 0.16 Hypoplastic th...
Hands and Feet Pre- or postaxial polydactyly Syndactyly Clinodactyly
Skull Shape, mineralization, and degree of  ossification Interorbital distance measured to exclude  hyper- or hypotelorism
Spine and Pelvis Platyspondyly
Imaging Approach : Post-natal Skeletal              Survey  AP and lateral skull to include the atlas     and axis    AP...
Modifications In preterm fetuses and stillbirths, babygram i.e. two anteroposterior (AP) and lateral films from head to f...
What to look for? A – Anatomical localisation B – Bones C – Complications D – Dead/alive
A- Anatomical site Cleidocranial dysplasia, ischiopubicpatella syndrome Spondyloepimetaphyseal dysplasia (tarda or conge...
B – Bones Structure Shape Size Sum Soft tissues
Structure Bone density Exostoses and enchondromas Metaphyseal striations- osteopathia striata Bone islands e.g. osteop...
Shape   Metaphyses – flared   Epiphyses- stippled or cone-shaped   Platyspondyly   Hooked vertebral bodies as in    mu...
Flared Metaphyses                       Stippled Epiphyses                    Hooked vertebral bodies
Size Short, long, large, broad or hypoplasticSum Too many, too few, or fusedComplications Fractures e.g. osteogenesis i...
Fractures   Atlantoaxial instability
Group 1 (Achondroplasia group)Achondroplasia :- Bullet-shaped’ vertebral bodies- Decrease in interpedicular distance in lu...
Group 1  Thanatophoric dysplasia - Most common lethal neonatal skeletal     dysplasia -   Short ribs with wide costochond...
Group 3 (Metatropic Dysplasia Group) Short tubular bones  with marked  metaphyseal  widening (dumb-  bell) Platyspondyly...
Group 4/Asphyxiating thoracic  dysplasia                                  •Small thorax                                  w...
Group 4 Ellis–van Creveld (chondroecto dermal dysplasia)
Group 8 (Type II Collagenopathies)  Spondyloepiphyseal  dysplasia congenita  & Tarda           Characteristic mound of bo...
Group 11 (Multiple Epiphyseal Dysplasias And Pseudoachondroplasia Short limbs with  normal head and  face Platyspondyly ...
Group 12 (ChondrodysplasiaPunctata/Stippled Epiphyses)   Stippled   calcification in   cartilage, parti   cularly around ...
Group 13 (Metaphyseal Dysplasias) Metaphyseal  chondrodysplasia  (Schmid)- Metaphyseal  flaring- Increased  density and  ...
Group 19 (Dysplasias With PredominantMembranous Bone Involvement)   Cleidocranial   dysplasia
Group 22 (Dysostosis Multiplex) Mucopolysaccharid    oses-   Macrocephaly-   Thick vault with    ‘ground-glass    capacit...
Morquios Syndrome (MPS-IV) Normal  intelligence Absent odontoid  peg Platyspondyly Progressive  disappearance of  femo...
Group 24 (Dysplasias With Decreased           Bone Density)  Osteogenesis imperfecta - a group of conditions sec. to abno...
 Wormian bones Basilar    invagination   Hyperplastic    callus   Severe    protrusio    acetabuli   ‘Codfish’    ver...
Group 26 (Increased Bone DensityWithout Modification Of Bone Shape) Osteopetrosis- Generalized increase in skeletal densi...
 Osteopoikilosis- Sclerotic foci  (islands), around  pelvis and  metaphyses of  long bones
Group 31 (Disorganized Development   Of Cartilaginous And Fibrous   Components Of The Skeleton)  Multiple cartilaginous e...
Diaphysial Aclasis
 Enchondrom  atoses  (Olliers  disease/  Maffuci  syndrome)- Expansion of  the bone  with cortical  thinning- Areas of  c...
 Fibrous dysplasia- Skull - asymmetrical thickening of the    vault with sclerosis at base: multiple    rounded areas of ...
Radiological Electronic Atlas Of   Malformation SyndromesAnd Skeletal Dysplasias (REAMS) An electronic atlas, drawn from ...
THANK YOU.
Radiological approach to Congenital skeletal dysplasia
Radiological approach to Congenital skeletal dysplasia
Radiological approach to Congenital skeletal dysplasia
Radiological approach to Congenital skeletal dysplasia
Radiological approach to Congenital skeletal dysplasia
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Radiological approach to Congenital skeletal dysplasia

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Radiological approach to Congenital skeletal dysplasia

  1. 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 et.al 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. 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. 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. 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. 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. 6. Hands and Feet Pre- or postaxial polydactyly Syndactyly Clinodactyly
  7. 7. Skull Shape, mineralization, and degree of ossification Interorbital distance measured to exclude hyper- or hypotelorism
  8. 8. Spine and Pelvis Platyspondyly
  9. 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. 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. 11. What to look for? A – Anatomical localisation B – Bones C – Complications D – Dead/alive
  12. 12. A- Anatomical site Cleidocranial dysplasia, ischiopubicpatella syndrome Spondyloepimetaphyseal dysplasia (tarda or congenita) Metaphyseal chondrodysplasia
  13. 13. B – Bones Structure Shape Size Sum Soft tissues
  14. 14. Structure Bone density Exostoses and enchondromas Metaphyseal striations- osteopathia striata Bone islands e.g. osteopoikilosis
  15. 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. 16. Flared Metaphyses Stippled Epiphyses Hooked vertebral bodies
  17. 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. 18. Fractures Atlantoaxial instability
  19. 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. 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. 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. 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. 23. Group 4 Ellis–van Creveld (chondroecto dermal dysplasia)
  24. 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. 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. 26. Group 12 (ChondrodysplasiaPunctata/Stippled Epiphyses)  Stippled calcification in cartilage, parti cularly around the joints and in laryngeal and tracheal cartilages
  27. 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. 28. Group 19 (Dysplasias With PredominantMembranous Bone Involvement)  Cleidocranial dysplasia
  29. 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. 30. Morquios Syndrome (MPS-IV) Normal intelligence Absent odontoid peg Platyspondyly Progressive disappearance of femoral capital epiphyses
  31. 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. 32.  Wormian bones Basilar invagination Hyperplastic callus Severe protrusio acetabuli ‘Codfish’ vertebral bodies ‘Tam OShanter’ appearance
  33. 33. Group 26 (Increased Bone DensityWithout Modification Of Bone Shape) Osteopetrosis- Generalized increase in skeletal density- Alternating bands of radiolucency and sclerosis
  34. 34.  Osteopoikilosis- Sclerotic foci (islands), around pelvis and metaphyses of long bones
  35. 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. 36. Diaphysial Aclasis
  37. 37.  Enchondrom atoses (Olliers disease/ Maffuci syndrome)- Expansion of the bone with cortical thinning- Areas of calcification within the lesions
  38. 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. 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. 40. THANK YOU.
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