PRESENTED BY: GUIDED BY:

DR.B.ANAND,
DR.S.SHANMUGAM,
P.G. STUDENT, PROFESSOR & H.O.D.,
DEPT OF ORAL MEDICINE & RADIOLOGY, DEPT OF ORAL
MEDICINE & RADIOLOGY,
RAGAS DENTAL COLLEGE & HOSPITAL, RAGAS DENTAL COLLEGE &
HOSPITAL,
CHENNAI-600119. CHENNAI-600119.
CHIEF COMPLAINT
Parents non consanguineous marriage ,only son,

father short statured

Prominent forehead
Disproportionately
short statured

Head large compared

to rest of body

Normal intelligence
LATERAL VIEW

Retrognathic maxilla

Relative mandibular prognathism

Concave profile
Limbs short and
stubby
Lumbar lordosis

Prominent
buttocks
OPG
 DIAGNOSIS & Rx
 ACHONDROPLASIA.

Rx:
1. Complete scaling and curettage in relation to
43,42,41.31 region.
2. Extraction of root stumps of 14 and 46 under
LA.
3. Amalgam restoration of 16,26.
 INTRODUCTION
The term Achondroplasia was first used by
Parrot in 1878 to describe a rhizomelic form
of short limbed dwarfism

It is the most prevalent form of dwarfism, with

an incidence of approximately 1 in 25,000
(Pauli et al. 1997).
Point mutation (guanosine substitution
for adenine) in a gene on chromosome 4

Results in substitution of an original

residue for glycine in fibroblast growth
receptor 3 (FGFR3).
 endochondral ossification defect

inhibited proliferation of chondrocytes in growth

plate cartilage

decreased cellular hypertrophy

decreased cellular matrix production

limb and spine growth disturbances

(Thomeer and van Dijk 2002)
 CLINICAL FEATURES
 Short stature
 Rhizomelic dwarfism
 a disproportionately long trunk.
 Trident hands
 Midfacial hypoplasia
 Cont…
 Prominent forehead
 thoracolumbar kyphosis and lumbar
spinal stenosis.
 Limitation of joint motion
 Normal intelligence
Infants display thoracolumbar kyphosis, and
muscle hypotonia

By 12–18 months, the trunk develops

strength.

Anterior vertebral wedging in achondroplasia

becomes resolved in 90% of patients

In 10% transient kyphosis cases become

fixed,
Median sagittal sections of ninth month foetal skulls
to illustrate comparative growth changes.
A, normal; B, achondroplast;
PICTORIAL REPRESENTATION OF FEMUR AND CLAVICLE
IN A ACHONDROPLAST AND NORMAL INDIVIDUAL
PICTORIAL REPRESENTATION OF EPIPHYSIAL VOLUME
 ORAL MANIFESTATIONS

Malocclusion due to disparity in the size

of the 2 jaws

Normal dentition
COMPLICATIONS:

 Respiratory difficulties
 Hypotonia, and joint laxity
 Frequent otitis media
 Hydrocephalus
 late onset neurological complaints because of
spinal stenosis.
 The most serious is narrowness of the
cervical canal or foramen magnum or both

cervicomedullary compression

consequent risk of death,

central apnoea,
 Radiographic features
 Midfacial hypoplasia
 Enlarged calvaria
 Shortening of base of skull
 Reduced size of foramen magnum
 Long bones shorter than normal
 Thickened and mildly clubbed ends
 Differential Diagnosis
 Pituitary dwarfism
 Ellis van Creveld Syndrome
Diagnosis :

Before birth, an ultrasound

At birth or during infancy, with x-rays and a

physical examination.

Genetic testing using a blood sample can be

done to look for a mutation (change) in the
gene
 Treatment and Prognosis

 No treatment for achondroplasia

 Frequent middle ear infection and dental

crowding needs attention

 If patient survives first few years of life

– normal life expectancy
 Discussion

FEATURES presence
Short stature +
Rhizomelic dwarfism +
+
a disproportionately long trunk.
_
Trident hands +
Midfacial hypoplasia +
Prominent forehead +
_
thoracolumbar kyphosis
+
Limitation of joint motion +
Normal intelligence
Malocclusion
 FEATURES presence
Enlarged calvaria +
+
Shortening of base of skull
_
Reduced size of foramen magnum +
Long bones shorter than normal +
_
Thickened and mildly clubbed ends
_
neurological complaints
_
otitis media
Respiratory difficulties
CONCLUSION