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

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

9. Skull
 Shape, mineralization, and degree of
ossification
 Interorbital distance measured to exclude
hyper- or hypotelorism

10. Spine and Pelvis
 Platyspondyly

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

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

19. Flared Metaphyses
Stippled Epiphyses
Hooked vertebral bodies

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

21. Fractures Atlantoaxial instability

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

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

27. Group 4
 Ellis–van
Creveld
(chondroecto
dermal
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

30. Group 12 (Chondrodysplasia
Punctata/Stippled Epiphyses)
 Stippled
calcification in
cartilage, parti
cularly around
the joints and
in laryngeal
and tracheal
cartilages

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

36.  Wormian bones
 Basilar
invagination
 Hyperplastic
callus
 Severe
protrusio
acetabuli
 ‘Codfish’
vertebral bodies
 ‘Tam O'Shanter’
appearance

37. Group 26 (Increased Bone Density
Without Modification Of Bone Shape)
 Osteopetrosis
- Generalized
increase in
skeletal density
- Alternating
bands of
radiolucency
and sclerosis

38.  Osteopoikilosis
- Sclerotic foci
(islands), around
pelvis and
metaphyses of
long bones

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)

40. Diaphysial Aclasis

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

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

45. THANK YOU.