Classification and important diagnostic stigmata

SKELETAL DYSPLASIA

Short limb skeletal

dysplasia
Rhizomelic (proximal limb shortening)
Hypochondroplasia
Achondroplasia
Chondrodysplasia punctata
Pseudoachondroplasia

Short limb skeletal

dysplasia
Mesomelic (middle segment limb shortening)
Dyschondrosteosis
Mesomelic dysplasia

Short limb skeletal

dysplasia
Acromesomelic (middle and distal segment
limb shortening)
Chondroectodermal dysplasia
Acromesomelic dysplasia
Mesomelic dysplasia

Short limb skeletal

dysplasia
Acromelic (distal segment limb shortening)
Asphyxiating thoracic dysplasia
Peripheral dysostosis

Short spine skeletal

dysplasia
Pseudoachondroplasia
Spondyloepiphyseal dysplasia
Spondylometaphyseal dysplasia

Diastrophic dwarfism
Metatropic dwarfism
Kniest syndrome

Osteogenesis Imperfecta
Brittle bone disease: abnormalities of

collagen/collagen production
Type I: autosomal dominant, age at
presentation 2-6 years
Type II (congenital lethal OI): autosomal
recessive, pre or perinatal death (pulmonary
hypoplasia)
Type III (severe progressive OI): autosomal
dominant, marked progressive limb and spine
deformity
Type IV: autosomal dominant, most mild form

Osteogenesis Imperfecta
Demineralization, cortical thinning
Multiple fractures with pseudoarthrosis
Exuberant callus formation

Blue sclerae
Presenile deafness (otosclerosis)
Dentinogenesis imperfecta
Skull: Wide sutures + Wormian bones

The radiograph clearly

demonstrate multiple fractures
of ribs and extremities and
pulmonary hypoplasia.

radiographically visible
rib fractures

markedly
diminished
ossification of the
skull

Osteopetrosis
Marble bones, brittle bones, osteosclerosis
fragilis
Abnormally dense bones

Brittle, fracture easily

"Erlenmeyer flask" deformity of long bones
"Rugger jersey" spine
May be cause of anemia (due to obliterated

marrow space)

Bone involvement is bilateral and

symmetric and consists of diaphyseal and
metaphyseal heterogeneous osteosclerosis
(white arrow). Shape of the tibia is tubular
because of thickening of the cortex on both
its endosteal and periosteal aspects.
Corticomedullary margins in the diaphysis
are blurred, and the marrow cavity is
obliterated (black arrow).

symmetric osteosclerosis of both tibiae,

which also involves the proximal and
distal epiphyses. A radiolucent band
(arrows) separates metaphyseal and
epiphyseal osteosclerosis.

sclerosis, which
is most
pronounced in
the skull base
with relative
sparing of the
mandible. The
cervical vertebrae
are also sclerotic.

Fibrous Dysplasia
X ray: "ground glass" lesion with sclerotic rim
May be expansile, predominantly metaphysis to

diaphysis
Monostotic form
any bone (ribs, femur, tibia most common)
diametaphyseal

Polyostotic form
unilateral predominance
not familial
scalloping, expansion, deformity (Sheperd's crook)

Multiple expansile, bubbly lesions are present

Multiple expansile, bubbly lesions are present

Contrast-enhanced CT
scan demonstrates an
expansile lesion
containing numerous
unorganized bone
trabeculae (arrow) within
the left mandibular body.

Fibrous
dysplasia. Threedimensional
reformatted CT
image shows
protuberance of
the right maxilla
and loss of the
nasomaxillary
angle

Achondroplasia
Most common type of short limbed dwarfism
Hereditary: auto-dominant, > 90% sporadic

(due to late mutation of gene)

Achondroplasia
x-ray features:
Short extremities and ribs
Proximal more than distal (rhizomelia)
Pelvis: small, squared iliac wings, horizontal acetabular roof
"champagne glass"
Hands: fingers widely opposed and equal length "trident hands"
Skull: enlarged vault and mandible, small skull base and
foramen magnum
Spine:
narrow AP diameter with concave posterior surface and spinal canal

only 1/2 normal depth

decreased lumbar interpediculate distance
hypoplastic ("bullet nose") T-L vertebrae

Rhizomelic (proximal)
limb shortening, with
flaring of long bone
metaphysis.

Radiograph shows short bones,

metaphyseal flaring, and genu
varum.

short iliac bones, acetabular roof horizontal

Frontal and lateral skull radiographs show

that the cranial vault is large in relation to
the small skull base. There is frontal
bossing and a depressed nasion.

Vertebra show decreasing

interpedicular distance as you go more
caudally in lumbar spine

Sagittal T2-weighted MR image of a 26year-old woman with known

achondroplasia and symptoms suggesting
spinal stenosis demonstrates posterior
vertebral scalloping (arrows) throughout
the lumbar spine with multilevel spinal
stenosis.

Fibrodysplasia Ossificans
Progressiva
Autosomal dominant
Progressive ossification of muscle and

connective tissue
Ossification of ligaments and tendons
nuchal ligament
upper extremities and neck==>shoulders, back, and

spine==>chest
pelvic entheses

Asymptomatic at birth
90% --> short great toes

Radiograph of right
humerus shows ectopic
ossifications in right axillary
region.

Radiograph
of foot
reveals
hallux
valgus and
deformities
of proximal
phalanges
of great toes

Cleidocranial Dysostosis
Disorder of ossification/development of midline bones

autosomal dominant, 33% sporadic (spontaneous

mutation)
Skull
delayed mineralization
wormian bones
basilar invagination

Clavicles
aplasia / hypoplasia, usually lateral portion

Other skeletal abnormalities

small, high scapula
wide symphysis pubis
acro-osteolysis

Chest
radiograph
shows
defective,
hypoplastic
clavicles
(arrows)

Frontal and lateral skull radiographs show

frontal bossing, brachycephaly, wide
biparietal diameter, and wormian bones
along the lambdoid sutures. Concomitant
ossicular abnormalities required use of a
hearing aid.

Mucopolysaccharidosis
Extremely complex group of disorders
Abnormality in mucopolysaccharide

metabolism
Several types

Hurler's Syndrome
Mucopolysaccharidosis type I (gargoylism)
autosomal recessive
1 in 10000 births

Prognosis: death in early teens

Mental retardation

Hurler's Syndrome
Dwarfism
Kyphosis
Long bones are short and thick

Ribs: oar shaped

Pelvis: small, flared iliac wings
Vertebral bodies: hook shaped
Phalanges of hands: coarse texture, wide shafts,

tapered proximal ends (esp. metacarpals)

J-shaped sella

Skull- J shaped sella, thick calvaria

Pelvis: small,
flared iliac
wings,
steepened
acetabular roofs,
thick ischial and
pubic bones

Spine: lumbar vertebrae anterior

inferior beaking, kyphosis

Hand: widened
diaphyses of
proximal and middle
phalanges with
pointing of the
proximal ends of the
2nd through 5th
metacarpals

Frontal chest
radiograph
shows that the
ribs are thin
and tapered
proximally;
they widen and
become very
broad distally
(oar shaped).

Morquio's Disease
Mucopolysaccharidosis type IV autosomal
recessive
Normal intelligence

Platyspondyly ("universal vertebra plana" =

hallmark)
Anterior beaks of vertebrae/bullet shaped
Dwarfism, kyphosis, severe disability
"Wine glass" pelvis

Flexion and extension views of the cervical spine demonstrates incompletely

ossified odontoid. There is some translation of C1 and C2 suggesting
ligamentous laxity and flattening of the vertebral bodies (platyspondyly)
and beaking of their anterior margins. J shaped sella.

AP Pelvis
shows coxa
valga with
shortening
and
widening
of the
femoral
necks.
Also, the
acetabular
roofs are
steep
bilaterally.

AP and Lateral
views of the
thoracolumbar
spine show
narrowing of
the thoracic
and lumbar
vertebral
bodies with
hypoplasia of
the anterior
margins of the
vertebrae.
There is gibbus
deformity at
the
thoracolumbar
junction.

Multiple Epiphyseal
Dysplasia
Onset 5 14 years. May be familial
Carpal and tarsal bones, hips, knees and ankles

are most commonly affected

Delayed appearance and growth of epiphyses,
fragmented and flattened
Metaphyseal irregularities, widened to match
the deformed adjacent epiphyses
Short stubby digits and metacarpals
Spine usually but not always normal
Early and severe osteoarthritis

Radiograph of shoulder reveals

ossification center for head of
humerus as flattened and fragmented.
Note faint irregularity of tip of
acromial process.

Radiograph shows marked

irregular mineralization in
distal epiphysis of
humerus; however, head of
radius is normally
mineralized.

Radiograph reveals irregular

mineralization and flattening of
femoral heads with distinct coxa
vara deformity. Acetabular
borders are irregularly
mineralized.

Summary
Osteogenesis Imperfecta: multiple
fractures + callus formation
Osteopetrosis: dense sclerotic
bones
Fibrous Dysplasia: ground glass
expansile lesions
Achondroplasia: asymmetrical
dwarf + skull + spine

Summary
Cleidocranial Dysostosis: hypoplastic

clavicles + skull
Mucopolysaccharidosis: tapered bones
Multiple Epiphyseal Dysplasia:
fragmented and flattened epiphyses
Fibrodysplasia Ossificans Progressiva:
soft tissue ossification

Thank You