Developmental Disorders

of the Bone

Osteogenesis Imperfecta
(Brittle bone Syndrome)

It is hereditary disease of bone

Osteoporosis and Osteopetrosis
In osteporosis
Bones are fragile and brittle
It is often fatal if it develops during
intraurterine life.
It may also develop during child hood
or early adult life.

Osteogenesis Imperfecta
(Brittle bone Syndrome)
In osteoporosis the long bones are thin
with narrow poorly formed cortics
Fractures are common but usually heal
without any trouble
The skull is thin and tends to bulge
over the ear
The jaws are severely affected

Osteogenesis Imperfecta
(Brittle bone Syndrome)
They consists of small delicate trabeculae
Cortices of the bone composed of immature
woven bone Osteoblasts fail to form bone in
adequate amount
Other abnormalities are joint hypermobility
Lax ligaments thin translucent skin, blue
sclerae

Osteogenesis Imperfecta
(Brittle bone Syndrome)
The basic defect appears to lie in
collagenous matrix of the bone
It is suggested that the disturbance of normal
cross-linking between collagen molecules as
collagen matures
It is inherited as an autosomal dominont
It is often associated with dentinogenesis
imperfecta

Osteopetrosis (Albers Schoenberg

or Marble Bone Disease)
It is characterized by excessive density
of bones
Obliteration of marrow cavities
Development of secondary anemia
Defect in Osteoclastic activity
Failure in remodeling of developing
bone

Osteopetrosis (Albers Schoenberg

or Marble Bone Disease)
There is an excessive bone formation
which is mechanically weak so the
fractures are common
Delayed eruption of teeth
Osteomyelitis is common complication
of tooth extraction

Osteopetrosis (Albers Schoenberg

or Marble Bone Disease)

There are two types:

a) Malignant and prograsive inherited as

autosomal recssive and occur early in
life with severe bone fragility

Death usually occurs before buberty

Osteopetrosis (Albers Schoenberg

or Marble Bone Disease)

b) A benign autosomal dominant type

Bone charges are less severe

There may be repeated fracture following
minor trauma

Osteopetrosis (Albers Schoenberg

or Marble Bone Disease)

RADIOLOGY shows increase density

of bone in all skeleton with no
distinction between cartical and
madullary bone
Base of the skull shows marked
radiopacity where as the vault is
generally less dense

Osteopetrosis (Albers Schoenberg

or Marble Bone Disease)

RADIOLOGY
Mandible is more frequently affect
than maxilla
Density of the bone reaches to the
roots of the teeth so roots are
invisible on X-Ray

Cleidocranial Dysostosis
(Cleidocranial Dysplasia)

The disease is transmitted as an

autosomal dominant trait
It is characterized by abnormalities of
many bones
The disease is particularly of the
skull, Jaws Clavicle and dental
abnormalities

Cleidocranial Dysostosis
(Cleidocranial Dysplasia)

In the skull the fontanelles and

sutures tends to remain open
Skull appears flat with prominent
frontal paratal and occipital bones
Partial or complete absence of
clavicles allows the shoulders to be
brought forwards until they meet in
midline

Cleidocranial Dysostosis
(Cleidocranial Dysplasia)

The maxilla may be under developed with

high narrow arched palate
Deciduous dentition tends to retain with
delayed or non eruption of permanent
dentition
Multiple impactions and supernumerary
teeth are common specially in a mandibular
premolar and incisor region
The roots of teeth are thinner than normal