ACHONDROPLASIA

ORTHOPAEDIC AND TRAUMATOLOGY DEPARTMENT

FACULTY OF MEDICINE
HASANUDDIN UNIVERSITY
 CASE
• A two months old male child with a history of
recurrent respiratory tract infections and
respiratory distress
• On examination the breathing pattern was
rapid and shallow
• The head circumference was 40 cm
RADIOGRAPHIC FINDINGS
RADIOGRAPHIC FINDINGS
RADIOGRAPHIC FINDINGS
DISCUSSION
 Introduction
• It is an autosomal-dominant disorder with
complete penetrance. Eighty percent of cases
are new mutations, and 99% of the mutations
are in the G380R region of FGFR3

Pediatric Orthopedics Secret

 Features include:
• Facies: Frontal bossing, midface hypoplasia, and a low nasal bridge
• Limbs: Rhizomelic shortening; relative overgrowth of the clavicle,
producing broad shoulders; relative overgrowth of the fibula,
producing ankle varus; genu varum; brachydactyly; a deep cleft
between the longest and ring fingers; equalization of the length of
the fingers, producing a trident hand; and limited elbow and hip
extension
• Joints: Ligamentous laxity
• Spine: Thoracolumbar kyphosis in infancy, lumbar hyperlordosis,
and lumbar spinal stenosis due to short pedicles and progressive
interpedicular narrowing in the lumbar spine
• Pelvis: Constriction at triradiate cartilage with a flat acetabular roof
and relative flaring of the ilia, producing champagne pelvis; and
coxa vara
• Neural: Hydrocephalus; occasional foramen magnum stenosis,
producing brainstem compression
Pediatric Orthopedics Secret
 INCIDENCE
• Most common dwarfism
• Range between 1.3/100,000 and 1.5/10,000
live births

Tachdjian, Padiatrics Orthopaedic, 4th ed. 2008 p. 1683

 GENETICS
• Autosomal dominance trait
• Mostly caused by spontaneous mutation
• Caused by G380 mutation of FGFR3 (fibroblast
growth factor receptor 3, on chromosome 4P)
Inhibition of chondrocyte proliferation in
the proliferative zone of the physis

Results in defect in
endochondral bone formation

Quantitative cartilage defect

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 PATHOPHYSIOLOGY
• Failure of enchondral ossification
• Intramembranous and periosteal ossification
is undisturbed
• Fibrous tissue present in the zone of
provisional calcification
• Bones remain short
• Intramembranous ossification is normal
(diameter of bones are normal)
Tachdjian, Padiatrics Orthopaedic, 4th ed. 2008 p. 1683-1684
 HISTOLOGIC

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Tachdjian, Padiatircs Orthopaedic, 4th ed. 2008 p. 1680

Miller, Review of Orthopaedics, 6th ed. 2012 p. 219
Tachdjian, Padiatircs Orthopaedic, 4th ed. 2008 p. 1680
 SIGNS AND SYMPTOMPS
• Facies: Frontal bossing, midface hypoplasia, and a low nasal bridge

• Limbs: Rhizomelic shortening; relative overgrowth of the clavicle, producing broad

shoulders; relative overgrowth of the fibula, producing ankle varus; genu varum;
brachydactyly; a deep cleft between the longest and ring fingers; equalization of the
length of the fingers, producing a trident hand; and limited elbow and hip extension

• Joints: Ligamentous laxity

• Spine: Thoracolumbar kyphosis in infancy, lumbar hyperlordosis, and lumbar spinal

stenosis due to short pedicles and progressive interpedicular narrowing in the lumbar
spine

• Pelvis: Constriction at triradiate cartilage with a flat acetabular roof and relative flaring
of the ilia, producing champagne pelvis; and coxa vara

• Neural: Hydrocephalus; occasional foramen magnum stenosis, producing brainstem

compression
Pediatric Orthopedics Secret
 Features include:
• Facies: Frontal bossing, midface hypoplasia, and a low nasal bridge
• Limbs: Rhizomelic shortening; relative overgrowth of the clavicle,
producing broad shoulders; relative overgrowth of the fibula,
producing ankle varus; genu varum; brachydactyly; a deep cleft
between the longest and ring fingers; equalization of the length of
the fingers, producing a trident hand; and limited elbow and hip
extension
• Joints: Ligamentous laxity
• Spine: Thoracolumbar kyphosis in infancy, lumbar hyperlordosis,
and lumbar spinal stenosis due to short pedicles and progressive
interpedicular narrowing in the lumbar spine
• Pelvis: Constriction at triradiate cartilage with a flat acetabular roof
and relative flaring of the ilia, producing champagne pelvis; and
coxa vara
• Neural: Hydrocephalus; occasional foramen magnum stenosis,
producing brainstem compression
Pediatric Orthopedics Secret
 • Physical exam
– Classic rhizomelic dwarfism (adult heigh ~ 50 inches)
• humerus shorter than forearm and femur shorter than tibia
• normal trunk
– Frontal bossing and button noses
– Trident hands (inability to approximate extended middle and
ring finger)
– Thoracolumbar kyphosis
– Excessive lordosis (due to short pedicles)
– Bowed legs
– Muscular hypotonia
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Miller, Review of Orthopaedics, 6th ed. 2012 p. 221
 Radiograph Finding
• Lumbar spine findings:
• shortened pedicles
• decreased interpedicular distance from L1-S1 (pathognomonic)
• vertebral wedging in thoracolumbar kyphosis
• posterior vertebral scalloping
• Pelvis and extremities:
Recommended views AP pelvis and weight-bearing hip-to-ankle AP
Findings :
• Champagne glass pelvis (pelvis is wider than deep)
• Squared iliac wings
• Inverted V in distal femur physis indications
• MRI Indication:
• Evaluate spinal stenosis
• Adjunct to sleep study for screening foramen magnum stenosis in infants

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 DIFFERENTIAL DIAGNOSIS
• Hypochondroplasia
• Thanatophoric dysplasia
• Pseudoachondroplasia

Miller, Review of Orthopaedics, 6th ed. 2012 p. 219

 TREATMENT
• Thoracolumbal kyphosis
• Non operative : Observation and Bracing
• Operative : Anterior corpectomy with posterior
fusion (bracing fail and kyphosis >45-600
• Lumbar stenosis
• Non operative : weight loss, physical terapy
• Operative : Multilevel laminectomy and fusion

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 TREATMENT
•Lumbar hyperlordosis
nonoperative: observation
•treatment typically not required
•Foramen magnum stenosis
operative
•surgical decompression of foramen
magnum (Sleep apnea or cord compression)

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 TREATMENT
• Genu varum
– operative
• tibial +/- femur osteotomies (based on CORA)
– indications
» pain or fibular thrust
» progressive deformity

• Short stature
– operative
• lower limb lengthening 
– indications (very controversial)
» feasible due to soft tissue redundancy
• upper extremity lengthening
– indications
» upper extremity lengthening required to maintain ADL's
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