April 2024 ONCOLOGY CARTOON by DR KANHU CHARAN PATRO
Radiological Diagnosis of Skeletal Dysplasias
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, 1061-77
3. 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.
6. 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.
7. Hands and Feet
Pre- or postaxial polydactyly
Syndactyly
Clinodactyly
8.
9. Skull
Shape, mineralization, and degree of
ossification
Interorbital distance measured to exclude
hyper- or hypotelorism
11. 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)
12. 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
13. What to look for?
A – Anatomical localisation
B – Bones
C – Complications
D – Dead/alive
14. A- Anatomical site
Cleidocranial dysplasia, ischiopubicpatella
syndrome
Spondyloepimetaphyseal dysplasia (tarda
or congenita)
Metaphyseal chondrodysplasia
15. B – Bones
Structure
Shape
Size
Sum
Soft tissues
16. Structure
Bone density
Exostoses and
enchondromas
Metaphyseal striations-
osteopathia striata
Bone islands e.g.
osteopoikilosis
17.
18. 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
20. Size
Short, long, large, broad or hypoplastic
Sum
Too many, too few, or fused
Complications
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
22. 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
23.
24. 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
25. Group 3 (Metatropic Dysplasia Group)
Short tubular bones
with marked
metaphyseal
widening (dumb-
bell)
Platyspondyly, Prog
ressive
kyphoscoliosis
Large
intervertebral discs
Flat acetabular
roofs
26. Group 4/Asphyxiating thoracic
dysplasia
•Small thorax
with short
ribs, horizontall
y orientated
•Horizontal
acetabula with
medial and
lateral ‘spurs’
(trident)
Asphyxiating thoracic dysplasia
28. Group 8 (Type II Collagenopathies)
Spondyloepiphyseal
dysplasia congenita
& Tarda
Characteristic mound of bone in
central and posterior part of the
vertebral end plates
29. 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
31. Group 13 (Metaphyseal Dysplasias)
Metaphyseal
chondrodysplasia
(Schmid)
- Metaphyseal
flaring
- Increased
density and
unevenness of
metaphyses, part
icularly of upper
femora and
around knees
32. Group 19 (Dysplasias With Predominant
Membranous Bone Involvement)
Cleidocranial
dysplasia
33. Group 22 (Dysostosis Multiplex)
Mucopolysaccharid
oses
- Macrocephaly
- Thick vault with
‘ground-glass
capacity’
- ‘J’-shaped sella
- Ovoid, hook-
shaped vertebral
bodies with
thoracolumbar
gibbus
34. Morquio's Syndrome (MPS-IV)
Normal
intelligence
Absent odontoid
peg
Platyspondyly
Progressive
disappearance of
femoral capital
epiphyses
35. 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
37. Group 26 (Increased Bone Density
Without Modification Of Bone Shape)
Osteopetrosis
- Generalized
increase in
skeletal density
- Alternating
bands of
radiolucency
and sclerosis
39. 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)
41. Enchondrom
atoses
(Ollier's
disease/
Maffuci
syndrome)
- Expansion of
the bone
with cortical
thinning
- Areas of
calcification
within the
lesions
42. 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
43.
44. Radiological Electronic Atlas Of
Malformation Syndromes
And 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