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)
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
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
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).
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
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)
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
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.
