Cleidocranial dysplasia is characterized by incomplete ossification of skeletal structures, including the clavicle and defective development of pubic bones, vertebrae, and long bones. It can cause total or partial absence of the clavicle, patent fontanelles, and multiple supernumerary or impacted teeth. Osteogenesis imperfecta is characterized by osteoporosis, blue sclera, dental abnormalities, and hearing impairment. It can cause bowing deformities, thinning of the bone cortex, and fractures. Osteopetrosis causes bones to become abnormally dense and fragile, initially affecting the skull base and causing sclerosis and thickening. Melorheostosis involves flowing hyperostosis

1. Spotters on Dysplasia's of Bone

2. Spotter 1

3. Cleidocranial dyspalsia (CCD)
• Characterized by incomplete ossification of
skeletal structures inclusive of clavicle as well
as defective development of pubic bones,
vertebral column and long bones.
• Failure of midline ossification (delayed closure
of symphysis pubis , fontanelles , mandible ,
neural arches , sternum &vertebral bodies)

4. • Clavicle :
• Total or partial absence
of the clavicle
• The outer end is absent
more frequently than
the inner
• Thorax- narrow
• Ribs- short and obliquely
downward
Frontal chest radiograph shows complete absence of the right clavicle(white
arrow) and absence of portions of the left clavicle (black arrows)

5. Skull
• Patent fontanelles

6. Teeth
• Multiple supernumerary and impacted teeth in maxilla and
mandible

7. Pelvis
• Delayed ossification of
bones forming
symphysis pubis ,
produces widened
symphysis
• Hypoplastic iliac
bones
• Poorly formed sacrum

8. Spotter 2

9. Osteogenesis Imperfecta (OI)
• In general, four major clinical features
characterize osteogenesis imperfecta :
1-Osteoporosis with abnormal bone fragility
(multiple diaphyseal fractures)
2-Blue sclera
3-Dental abnormalities (dentin dysplasia)
4-Hearing impairment (otosclerosis)

10. General Radiographic features
• Bowing deformities : genu valgum & coxa vara
• Thinning of cortex
• Frequent fractures
• Zebra stripe sign : cyclic bisphosphonate
treatment produces sclerotic growth
recovery lines in the long bone

11. Skull
• Basilar invagination
(craniocervical
junction abnormality
where the tip of the
odontoid process
projects above the
foramen magnum)

12. Spine
-Severe
kyphoscoliosis
-Posterior
vertebral
scalloping

13. Spotter 3

14. Osteopetrosis
• Erlenmeyer flask deformity , refers to a
radiographic appearance typically on a
femoral radiograph where there is relative
constriction of the diaphysis and flaring of the metaphysis

15. • Known as Albers-Schonberg disease or
marble bone disease
• rare hereditary disorder that results
from defective osteoclasts
• Bones become sclerotic and thick but their
abnormal structure results in them being
both weak and brittle

16. Skull
• The bones of the skull
base are initially
affected with sclerosis
and thickening

17. Spine

18. Spotter 4

19. Melorheostosis / Leri’s Disease
• Sclerosing bone dysplasia.
• characteristic appearance of flowing
hyperostosis.
• May be monostotic or polyostotic
• May involve one entire limb
• Usually does not involve multiple limbs
• Twice as common in lower extremities than
elsewhere

20. Long bones
• AP radiograph ;
dense cortical and
extra-cortical bone
formation (white
arrows) along the length
of the distal fibula to
the lateral malleolus
with associated
hyperostosis in the
lateral hind foot bones
(black arrows).

21. Spotter 5

22. Fibrous dysplasia
• A multilocular, partly cystic, expansile lesion
of the midshaft tibia is surrounded by a thick
rim of reactive sclerosis.

23. • Localised defect in osteoblastic differentiation
and maturation, with replacement of normal
bone with large fibrous stroma and islands of
immature woven bone

24. • Due to softening , expansion and fracture

25. Spotter 6

26. Achondroplasia
• Trident hand, description where the hands
are short with stubby fingers (all the fingers are almost
of equal length) with a separation between the middle
and ring fingers

27. • Congenital genetic disorder and the most
common the skeletal dysplasia
• Characterized by abnormal bone formation
at growth plate
• The most common type of disproportionate
dwarfism.

28. Long bones
• The femur and humerus are particularly
shortened (Rhizomelic shortening)

30. Spotter 7

31. MPS I-H(Hurler’s syndrome)
• Proximal tapering of metaphysis is noted.
• Sever osteopenia with cortical thining

33. • Hypoplasia of L2
vertebra with
pronounced inferior
beak.

34. Spotter 8

35. MPS IV(Morquio-Brailsford syndrome)
• Brachydactyly, irregular conical distal
metacarpals

36. • Femoral neck are
wide
• Acetabuli and capital
femoral epiphysis
are hypoplastic

37. Spotter 9

38. Arachnodactyly (Marfan’s syndrome )
• Elongation of metacarpals and phalanges is seen

39. • Marfan syndrome is a multisystem connective
tissue disease with autosomal dominant
inheritance of defect in fibrillin 1 gene.
• Metacarpal index- measuring the lengths of
2nd, 3rd , 4th and 5th metacarpals and dividing
their breadths taken at exact midpoint.
• Normal subject metacarpal index is 5.4 to7.9
and in Marfan’s range varies from 8.4 to 10.4

40. Spotter 10

41. Sprengel’s shoulder
• Abnormal high scapula.
• Due to failure of shoulder girdle to descend
from its embryonic position in neck.other
anomalies which frequently coexist include
cervical ribs, scoliosis, hemi vertebra, cervical
spina bifida.