ORTHOPAEDIC AND TRAUMATOLOGY DEPARTMENT

FACULTY OF MEDICINE
HASANUDDIN UNIVERSITY

ACHONDROPLASIA
Fitriani Syair – C 111 10 833
Hendrina Susan Kasale – C 111 12 027
Ananda Dwiyogi Asadul – C 111 12 161
Hadi Tryadi - C 111 12 331
Marina Ariesta – C 111 13 580

MENTOR:
dr. Pierre Alexander/dr. Iswahyudi

SUPERVISOR:
dr. Muh Ihsan Kitta, M.Kes, Sp.OT

August 08,2018
Introduction
 Structural abnormality in the bone leads to
disturbances in growth of the trunk or
extremities.
 More than 300 bone dysplasias have been
described, most of which are extremely rare
 Most of the bone dysplasias result in short
stature
 Some of the dysplasias are genetically
inherited, whereas others are not.
Anatomy of epiphysis
The Stages of Long Bone Development

 During ossification, osteoblasts transform into

osteoid, which progressively calcified, also by
osteoblast action. As the bone grows, the
osteoblasts become trapped in the matrix of
their own making and become osteocytes.
 In mature bone, a fine balance of osteoblast
and osteoclast activity maintains normal bone
structure
Definition
 “Achondroplasia” was first used by Parrot in 1878 to
describe a rhizomelic form of short-limbed dwarfism
associated with enlarged head, depressed nasal bridge,
short stubby trident hands, lordotic lumbar spine,
prominent buttocks, and protuberant abdomen.
 According to Salter Harris, Achondroplasia is the failure
of longitudinal growth in the cartilage of epiphyseal
plate.
 Achondroplasia is inherited as an autosomal dominant
trait
 Ninety percent of cases are the result of spontaneous
mutation
Epidemiology
 Worldwide, achondroplasia is the most common skeletal
dysplasia and dwarfism-form
 Incidence range between 1.3 per 100.000 live births and
1.5 per 10.000 live births
 Approximately 10,000 individuals are estimated to have
achondroplasia in the United States.
 About 80% of all "little people" have achondroplasia.
 The frequency is equal in males and females and all
races
 Ossification

Enchondral Ossification

• Bone replace a cartilage anlage/template

• Osteoclast removed the cartilage, and

osteoblasts make the new matrix, which is then
mineralized
• Longitudinal bone growth

Netter’s Concise Orthopaedic Anatomy 2nd Edition. 2010

 Ossification
Intramembranous Ossification

• Bone develops directly from mesenchymal cell,

then differentiate into osteoblast
• Flat Bone formation : Cranium, Pelvic, Clavicle

Netter’s Concise Orthopaedic Anatomy 2nd Edition. 2010

 Ossification

Appositional

• Periosteal –mediated long bone growth (width)

• Osteoblasts make new matrix/bone on top of
existing bone.

Miller’s review of Orthopaedics Seventh Edition. 2016

The physis provides
longitudinal growth in
long bones.

In Proliferative zone,
chondrocytes divide and
stack into columns
In Achondroplasia, there is a mutation in the gene coding for Fibroblast Growth
Factor Receptor 3 (FGFR3)
Diagnosis
 Anamnesis
 Physical examination
 Laboratory examination
 Radiographic findings
Anamnesis
 Previous disease
 Family history
 History of development and growth
 Pregnancy history
 Uterine trauma
 Infection while pregnant
 Teratogenic events
 History during labour
 Nutritional status
 Previous trauma
Physical Examination

Penting untuk menentukan potensi tinggi genetik anak

dan dihitung dengan cara sebagai berikut:
 Physical Examination

Craniofacial features
are as follows:
-Large calvarial bones in
contrast to the small
cranial base and facial
bones
-True megalencephaly
(large head) with frontal
bossing
-Midface hypoplasia
 Physical Examination
Skeletal features are as follows:
 Disproportionate short stature: Male average adult

height 131 ± 5.6 cm; female average adult height

124 ± 5.9 cm; average adult height for both
approximately 4 feet
Thoracolumbar kyphosis

Genu Varum
Physical Examination

Neurologic
findings are as
follows:
-Hypotonia in
infancy and early
childhood
-Delayed motor
milestones
Laboratory Examination
 Direct DNA analysis of FGFR3 mutations is
used for prenatal screening in families at risk
(ie, parents who are heterozygous for either
the G1138A or the G1138C mutation).
Radiology Examination
 Fetal USG → Early diagnosis, skeletal
anomalies and measure long bones (fetal
femoral length) and evaluate the skull.
Plain X-Ray:
- Os cranium is relatively
enlarged compared to the face
accompanied by frontal
protrusion.
- Foramen magnum shrinks and
irregular funnel-shapped shape.

Plain X-Ray:
- Chest anteroposterior diameter
decreases with anterior rib
shortening.
 -Bones of bone from the
hands and feet look short
lumbar kifosis and wide
-Trident-shaped hands are
often found
- its length
decreases,
especially in the
proximal limb
segment
- The fibula
extends and
bends
 Radiology Examination

Head CT Scan → neuroanatomic

abnormalities consistent with arrested MRI → narrowing of the foramen
hydrocephalus, enlarged cranial ventricles, magnum and lumbar canal stenosis
changes in the corpus callosum are seen.
 MRI Brain

A large cranial vault with relatively short skull base with prominent forehead,
depressed nasal bridge Narrowing of the foramen magnum with cervicomedullary
kinking.
Differential Diagnosis
 Hypochondroplasia
 Thanatophoric dysplasia
 SADDAN Syndrome → Severe Achondroplasia
with Development Delay and Acanthosis
Nigricans
 Pseudoachondroplasia
Treatments and Managements
Based on clinical manifestations
 Short stature → GH therapy, extended limb
lengthening (complications are frequent)
 Kyphosis → bracing support to prevent
persistence of thoracolumbar kyphosis
 Hydrocephalus → know the symptomps of
increased ICP → ventriculoperitoneal shunting
Thoracolumbar Spinal Brace
Complications

Infants Toodlers and Adults

Children
Neurologic • Intracranial hypertension
• Ventriculomegaly
• True hydrocephaly
• Sudden infant death
(rare)
Orthopedic • Kyphosis up to standing • Hyperlordosis • Lumbar spinal
position • Genu vara stenosis
• Knee hypermobility • External rotation • Back pain
of the hips • Peripheral nerve
compression