2. CLEIDOCRANIAL
DYSPLASIA
Also known as marie & sainton’s
disease,scheuthaner-marie-saniton
syndrome,mutational dystosis.
DEF: it is defined as a congenital disorder
of bone formation manifested with
clavicular hypoplasia or agenesis with a
narrow thorax, with allows
approximation of the shoulders in front
of the chest.
3. It is a congenital condition transmitted
as autosomal dominant trait.
It is manifested as retardation or partial
failure of the development of the bones
of the clavicle and of the skull but not of
the mandible.
4. Etiology :
It is familial and appears as true
dominant mendelian characteristic.
Mutations in the core binding factor
alpha 1 (CBFA) gene located on
chromosome 6p21 is the cause of
cleidocranial dysplasia.
5. CLINICAL FEATURES:
Characterized by abnormalities of skull,
teeth,jaw,shoulder girdle as well as by
occasional stunting of long bones.
Head is brachycephalic.
Paranasal sinuses are underdeveloped
and narrow.
Faulty development of foramen
magnum.
Dysplasia of paranasal sinuses.
6. Defect of shoulder girdle ranges from
absence of clavicle about in 10% of
cases, to partial absence or even
thinning of one or both clavicles.
Defects of vertebral column, pelvis &
long bones as well as of bones of
disease are also relatively common.
7. ORAL MANIFESTATIONS:
Maxilla & paranasal sinuses are
underdeveloped resulting in maxillary
macrognathia.
Maxilla underdeveloped in relation to
mandible.
Prolonged retention of deciduous teeth
and subsequent delay in eruption of
teeth.
8. Complete absence of cementum.
Disorganization of developing permanent
dentition.
Presence of supernumerary teeth usually
in anterior region.
High narrow arched palate and cleft palate
is common.
Roots of teeth are often shirt and thinner
than normal.
Crown may be pilled as a result of enamel
hypoplasia.
9. RADIAGRAPHIC
EXAMINATION:
Clavicles are typically reduced to single
or double fragments on each side with
middle part being deficient.
Changes are asymmetric.
Delay in ossification of pelvic bones
especially pubic & Ischial bones.
Spina bifida occulta observed in cervical
and upper thoracic levels.
10. Treatment:
No specific treatment.
Care of oral condition is important.
Retained deciduous tooth should be
restored if they become carious.
