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Dwarfism, bonydysplasia
1. DWARFISM
Presentation by- Nikhil .S.U
Chair person - Dr Ravishankar
Co-chair person- Dr Prakash
JSS hospital, Mysore
2. Introduction
Bone dysplasias ( Dwarfism)
Greek word – Dys- disordered
Plasia – development
Shortening of the growing bones in
different proportions due to multiple gene
defects
>200 disorders, abnormal growth of
bones and cartilage
Height less than 147cms, <3rd percentile
4. Based on location in short limb variety
rhizomelic = root, e.g., bones of the arm
or thigh
mesomelic = middle, e.g., bones of the
forearm or leg
acromelic = end, e.g., bones of hands
and feet.
micromelic = entire limbs are shortened
5. Source
chondro = of cartilage
osteo = of bone
spondylo = of the vertebrae
6. Lethal
Achondrogenesis
Thanatophoric dysplsia
Asphyxiating thoracic dysplasia(ATD)
Dysplasia epiphysealis punctata
Osteogenesis imperfecta
Non leathal
Majority of dysplasia
7. Achondroplasia
Syn; chondrodystrophia fetalis
Most common form of disproportionate
dwarfism
AD
Incidence - 1.5 per 10,000 live births.
GENETICS
Spontaneous mutation in Fibroblast Growth
Factor Receptor 3(FGFR 3)
There is failure in the cartilaginous
proliferative zone of physis- quantitative
defect
Associated with advanced paternal age
8. Signs and symptoms
Normal trunk and short limbs with
hypotonia
9. Lumbar stenosis & excessive lordosis
with spinal cord / nerve root
compression
Radial head subluxation
Normal intelligence but delayed motor
milestones
14. Treatment
Lumbar stenosis: decompression
(laminectomy & discectomy) and fusion
of the spine for a developing neurologic
deficit (usually in children older than age
10)
Posterior fusion of cervical spine is
recommended in individual cases
Foramen magnum stenosis:
decompression
Progressive kyphosis: if fail bracing,
anterior and posterior fusion are
indicated for residual kyphosis greater
than 50 degrees by age 5 years.
15. Genu varum: Tibial osteotomies or
hemiepiphysiodesis
Limb lengthening - adolescence
usually is the time when lengthening is
undertaken through callodiastasis
(lengthening through a metaphyseal
corticotomy) have been well
described, with a high rate of
complications.
Growth hormone is being used to
augment the height
16. SPONDYLOEPIPHYSEAL
DYSPLASIA
Defect in gene encoding Type 2
collagen
Abnormal epiphyseal development in
the upper and lower extremities-disproportionate
dwarfism
Retinal detachment and respiratory
problems are common.
17. Eyes are wide-set, the neck is short,
and the chest appears barrel shaped.
Genu valgum, is common.
Lumbar lordosis may be accentuated
and is usually due to hip flexion
contractures. The lordosis gives the
abdomen a protuberant appearance.
A waddling gait is produced by the
coxa vara
18. Generalised severe platyspondyly
Increased intervertebral disc height
Open staircase vertebrae
Kyphosis/ scoliosis
Widening sclerosis irregularity of
tubular bones
Irregular femoral epiphysis
Retarded bone maturation
19. Treatment
In case of cervical instability- posterior
cervical fusion from the occiput or C1
to C2 with halo vest immobilization is
necessary
When the scoliosis exceeds 50
degrees or is associated with
significant kyphosis, fusion with
standard instrumentation is effective
20. Valgus osteotomy when the neck–
shaft angle is less than 100 degrees,
when the Hilgenreiner–epiphyseal
angle is greater than 60 degrees
21. CHONDRODYSPLASIA
PUNCTATA
Multiple punctate calcifications seen on
radiographs during infancy.
2 types
1. Conradi-Hünermann syndrome- XR-normal
life expectancy(arylsulfatase E (ARSE)
gene mutation)
2. Autosomal recessive- fatal during the first
year of life, rhizomelic form.
Short stature, dry and scaly skin, occasional
heart defects, and cataracts and spinal
deformities are common.
Congenital vertebral anomalies - scoliosis or
kyphosis
22. Strippling / punctate calcification
tarus, carpus, long bone epiphysis,
vertebral transverse process, ischium
& pubis
Soft tissue calcification around the
joints present
23. Treatment
Orthopaedic treatment consists primarily
of managing the scoliosis- early anterior
and posterior spinal fusion
Prognosis ; bad prognosis, most patients
die due to respiratory complications by 1
year of age
24. KNIEST SYNDROME
Defect in COL2A1 gene
AD- short-trunked, disproportionate
dwarfism with joint
stiffness/contractures, scoliosis,
kyphosis, and hypoplastic pelvis and
spine
Otitis media and hearing loss are
frequent.
26. Treatment ;
Early therapy for joint contractures,
Reconstructive procedures for early
hip degenerative arthritis
Correction of the spinal deformity
27. METAPHYSEAL
CHONDRODYSPLASIA
Heterogeneous group of disorders
characterized by metaphyseal
changes of tubular bones with normal
epiphyses
Defect in the proliferative and
hypertrophic zones of the physis
29. Schmid type
More common, less severe
Genetic defect is in type X collagen-
AD
Short-limbed dwarfism not diagnosed
until patient is older
Metaphyseal flaring & irregularity with
widening of physis.
Enlarged capital femoral epiphysis
30.
31. treatment
Valgus osteotomy of the proximal
femur may be indicated for children
with significant coxa vara
32. Recurrence of deformity with growth is
common.
Hemiepiphysiodesis or stapling may
improve angular deformities in some
children.
33. Jansen type
Rare and most severe- AD
Genetic defect in parathyroid
hormone–related peptide
Retardation, markedly short-limbed
dwarfism with wide eyes, monkey-like
stance, and hypercalcemia
x ray shows triking bulbous
metaphyseal expansion of long bones
34. McKusick type
AR-
Cartilage-hair dysplasia (hypoplasia of
cartilage and small diameter of hair)
Most common in the Amish population and in
Finland
Atlantoaxial instability is common
Ankle deformity develops as a result of fibular
overgrowth distally.
Abnormal immunocompetence, increased
risk for malignancies, intestinal
malabsorption, and megacolon
35.
36. treatment
Orthopaedic treatment is usually
directed toward the ankle and foot-calcaneal
sliding osteotomy as
treatment for hindfoot varus
Growth hormone has recently been
used
37. MULTIPLE EPIPHYSEAL
DYSPLASIA
COMP gene mutation(Cartilage
oligomeric matrix protein )
Prevalence of MED was 9 per 100,000
Short-limbed, disproportionate
dwarfism often not manifested until
between the ages of 5 and 14.
A mild form (Ribbing) and a more
severe form (Fairbanks) exist
Waddling gait, and early hip arthritis
are common
38. Irregular, delayed ossification at
multiple epiphyses
Short, stunted metacarpals and
metatarsals, irregular proximal femora,
abnormal ossification (flattened tibial &
femoral condyles, patella
with double layer),
valgus knees
40. Treatment :
Caution regarding weight gain
Treat limb alignment and perform
early joint replacement
Shelf acetabular augmentation in
some patients - to improve coverage
of the misshapen femoral head
Osteotomies may be helpful in
realigning the lower extremities when
angular deformities exist, particularly
at the knee
42. DD s for MULTIPLE
EPIPHYSEAL DYSPLASIA
Perthes disease - usually affects
unilateral hip but when bilaterals each
hip is in a different stage of the
disease.- this is not the case in MED
Spondyloepiphyseal dysplasia-abnormal
epiphyseal development
with typical spine involvement which is
not found in MED
43. MUCOPOLYSACCHARIDOSIS
Due to hydrolase(lysosomal storage
disorder) enzyme deficiency-mucopolysaccharides
accumulate in
the body & produce proportionate
dwarfism.
Normal mucopolysaccharide excretion
in urine <15mg/24 hrs
It wil be >100mg/24hrs
44. All are AR, autosomal recessive; except MPS 2-XR, X-linked
recessive.
46. The facies coarse and heavy.
The head is enlarged, and hydrocephalus-meningeal
deposits.
The skull is abnormally shaped, and the forehead is low.
Premature closure of the sagittal and metopic sutures of the
skull leads to a prominent longitudinal ridge that may cross
the forehead.
The ears are low and the eyes are wide-set.
The teeth are poorly formed and widespread.
The nostrils are wide, and the nose has a depressed bridge
and broad tip.
The lips are everted, the tongue is enlarged, and the mouth
is open. “Chronic rhinitis” with noisy mouth-breathing is
always present and is due to narrowing of the nasopharynx
by enlarged adenoids and mucosal deposits.
This, combined with the presence of hernias, may be the
presenting sign of the disease
Clouding of the cornea is a universal feature of the disease
47. Urinary excretion of dermatan/heparan
sulfate
Treatment
Bone marrow transplantation has
increased the life span for patients
with this disorder- Transplantation
before the age of 24 months yields
better clinical results
48. Surgical reconstruction, including
reduction, femoral osteotomy, and
pelvic osteotomy- for Hip dysplasia
Carpal tunnel syndrome- Treated by
surgical decompression
49. Hunter syndrome
Bone marrow transplantation has been used in isolated cases of Hunter's syndrome
55. treatment
Manifesting myelopathy necessitates
decompression and cervical fusion
Genu valgum may be treated by
realignment osteotomy
Carry substantial anesthetic risk
because of their cervical instability and
respiratory and cardiac abnormalities
56.
57. Thanatophoric dysplasia
Disproportionately small ribcage,
extremely short limbs and folds of
extra skin on the arms and legs
lethal skeletal dysplasia
Narrow chest, small ribs and under
developed lungs
58.
59.
60. Children with this condition are usually
stillborn or die shortly after birth from
respiratory failure
Survivors have difficulty breathing on
their own and require respiratory
support
61. DIASTROPHIC DYSPLASIA
AR.
Deficiency in sulfate transport protein
Features
Severe, short-limbed dwarfism
Cleft palate (59% of cases)
Severe joint contractures (especially hip and
knee)
Cauliflower ears (80% of cases), hitchhiker’s
thumb
Rigid clubfeet
64. Treatment
Quadriplegia is a major concern with
deformities of the cervical spine.
Surgical release of clubfoot deformities
Osteotomies for contractures
Spinal fusion often required- Anterior fusion
with fibular strut grafting and posterior
fusion with halo immobilization
65. CLEIDOCRANIAL DYSPLASIA
(DYSOSTOSIS)
AD
Proportionate dwarfism that affects
bones formed by intramembranous
ossification (clavicles, cranium, pelvis)
Defect in -Core-binding factor alpha 1
(Cbfa1)- transcription factor for
osteocalcin
66.
67.
68. Delayed closure of skull sutures,
frontal bossing
Treatment
Excision of the clavicular fragments
can decompress the brachial plexus
Intertrochanteric valgus osteotomy if
neck-shaft angle is less than 100
degrees
74. At the end of the survey &
investigation prognosis has to be
conveyed to the family members
which includes genetic counselling
and appropriate occupation
Dysplastic may be of short
stature but not a lesser
human being.
75. References
Tachdjian's Pediatric Orthopaedics
Review of Orthopaedics- Miller
Radiology of syndromes, metabolic
disorders & skeletal dysplasia- Taybi &
Lachman’s
Essentials of skeletal radiology- Yochum
& Rowe’s
Turek s orthopaedics
Campbell's Operative Orthopaedics
Wikipedia