SKELETAL DYSPLASIA

PRESENTED BY :
DR SOURABH P KULKARNI
JR-1, DEPT OF RADIODIAGNOSIS
NARAYANA HEALTH CITY, BANGALORE
 SKELETAL DYSPLASIAS are a heterogenous group of
genetic disorders with abnormality of

BONE CARTILAGE

➢ Abnormality : Growth

➢ Site : Multiple bones/ cartilage of axial and appendicular skeleton.

➢ Pathogenesis : Genetic mutation.

➢ Phenotype: May evolve throughout life, i.e Previously apparently unaffected bones and joints may

demonstrate abnormality with increase in age.

➢ Group: 33 broad subgroups.

INHERITANCE :
PATHOGENESIS OF SKELETAL DYSPLASIAS :
Figure highlights the direction of cell division as chondrocytes progress from the resting zone to the
proliferative zone Arrows indicate activation of one pathway by another, and lines with a bar at the end
indicate inhibition of the pathway. Blue lines indicate crosstalk between pathways.
For example, PI3K is thought to affect the CNP, IHH, and PTHrP signaling pathways. Many of these pathways
have been implicated in multiple skeletal dysplasia

In the resting zone, chondrocytes divide in roughly any orientation , with division occurring along the long axis
of the cell.
Once the chondrocytes are in the proliferative zone, division occurs perpendicular to the direction of
longitudinal growth, followed by chondrocyte rotation to form an ordered columnar array of cells .

Following cell division, daughter cells remain closely associated and use the adhesion-laden surface to spread
over one another .

Cell adhesion, a critical regulator of column formation, and the composition of the extracellular matrix can be
directly affected by a defect in intracellular trafficking.
This process involves the endoplasmic reticulum, Golgi apparatus, and secretory vesicles.
Without proper trafficking of extracellular matrix and cell adhesion components, as well as ligands for critical
signaling pathways, the function of the growth plate can be profoundly compromised.
Often, the result is profound endoplasmic reticulum stress, which is a common pathogenic mechanism in
disorders of the skeleton, including osteogenesis imperfecta .
WORK-UP :
I. ANTENATAL :

• What is the degree of bone shortening?

✓ The severity of bone shortening varies from extreme (many standard deviations below the mean, at least
5-6 weeks below expected length for gestational age, with the limbs oriented at approximately right
angles to the fetal trunk) to mild-to-moderate (with a more normal orientation of the limbs to the fetal
trunk)

• What is the distribution of involvement?

✓ Rhizomelic, mesomelic, or acromelic bone shortening occurs with different dysplasias

• Are bone fractures or extremity bowing present?

✓ Fractures usually indicate osteogenesis imperfecta
✓ Extremity bowing may indicate the presence of a fracture, campomelic dysplasia, or diastrophic dysplasia
✓ Thanatophoric dysplasia may produce a "telephone receiver" appearance of the femurs

• What is the degree and distribution of ossification?

✓ Diffuse hypomineralization usually indicates osteogenesis imperfecta or hypophosphatasia
✓ Focal hypomineralization of the spine indicates achondrogenesis
• What is the calvarial configuration?​
✓ Cloverleaf skull deformity with micromelia indicates thanatophoric dysplasia

• What is the thoracic size?​

✓ A small thorax indicates a high probability of pulmonary hypoplasia, but the thoracic shape often
does not assist in rendering a specific diagnosis​
✓ Rib fractures with a bell-shaped thorax usually indicates osteogenesis imperfecta​

• Is polydactyly present?​
✓ Polydactyly with skeletal dysplasia usually indicates short rib
polydactyly syndrome, chondrodysplasia punctata, or asphyxiating thoracic dysplasia
B. SKELETAL RADIOGRAPHS :
C. LOW DOSE CT :
CLASSIFICATION BASED ON LETHAL DYSPLASIAS :

COMMON LETHAL DYSPLASIA :

• THANATOPHORIC DYSPLASIA
• ACHONDROGENESIS
• O.IMPERFECTA Type 2

RARE LETHAL DYSPLASIAS :

• CONGENITAL HYPOPHOSPHATASIA
• CAMPOMELIC DYSPLASIA
• CHONDRODYSPLASIA PUNCTATA
• HOMOZYGOUS ACHONDROPLASIA
• SHORT RIB POLYDACTYLY SYNDROME
 RADIOLOGICAL CLASSFICATION ( ACCORDING TO PANDA, et al 2014 ) :
Group I : Epiphyseal Dysplasia : Group II : Metaphyseal dysplasia :

• Chondrodysplasia punctata • Asphyxiating Thoracic dysplasia

• Multiple epithelial dysplasia • Chondroectodermal dysplasia
• Dysplasia epiphysealis hemimelica • Achondroplasia
• Thanatophoric dysplasia • Hypochondroplasia
• Spondyloepithelial dysplasia • Hypophosphatasia

Group III : Dysplasia with altered bone density : Group IV : Miscellaneous :

A. OSTEOPENIC • Cleidocranial dysplasia
• Mucopolysaccharidosis
• Mucolipidosis
• O. Imperfecta
• Ehler Danlos Sx

B. SCLEROSING :
• Osteopetrosis
• Osteopoikilosis
• O. Striata
• Melorheostosis
• Pyknodysostosis
• Infantile cortical hyperostosis
• Craniotubular dysplasia
• Epiphyseal dysplasia –
Hypoplastic + irregular epiphysis

• Metaphyseal dysplasia –
Widened / irregular metaphysis

• Diaphyseal dysplasia –
Cortical thickening + reduced marrow
space
GROUP I: EPIPHYSEAL DYSPLASIAS
✓ All dysplasias in this group have common radiological findings of:

✓ Abnormal epiphyses
✓ Epiphyseal irregularity leading to early osteoarthritis
✓ Deformities like coxa vara and genu valga .

✓ The re is secondary m etaphyseal flaring and ir re g ular ity due to

ep ip hyse al ab nor m ality

Coxa vara describes a deformity of the hip
Genu valgum denotes the valgus
where the angle formed
deformity of the knee,
between the head and neck of the femur
where the lower leg is bending outwards
with its shaft is decreased,
in relation to the axis of the femur.
usually defined as less than 120 degrees.
 GROUP II-METAPHYSEAL DYSPLASIAS
In this group there is:

1) Predominant metaphyseal irregularity/widening

2) Abnormal limb length.

Thus limb shortening can either be:

MESOMELIC/
RHIZOMELIC
ACROMELIC

o Achondroplasia
o Chondroectodermal dysplasia
o Hypochondroplasia
o Metaphyseal chondrodysplasias
 GROUP III
DYSPLASIAS WITH ALTERED BONE DENSITY
OSTEOPENIC OSTEOSCLEROTIC

• OSTEOPENIC DYSPLASIAS • OSTEOSCLEROTIC DYSPLASIAS

are are

= Dy s plasias + de cre as ed bone = Dysplasias + increased bone

density; density;

-> osteogenesis imperfecta is -> osteopetrosis is the prototype.

the prototype.
APPROACH TO SKELETAL DYSPLASIAS :
APPROACH TO SKELETAL DYSPLASIAS :

The first step in the stepwise approach is the categorization of a certain case
into a family based on pattern recognition.

The second step, the final diagnosis, is based on more meticulous

observations, such as the identification of different severities of the same
pattern or of subtle but distinctive radiologic findings
A. DYSOSTOSES MULTIPLEX FAMILY :

• This family includes mucopolysaccharidosis (MPS), mucolipidosis and

oligosasccharidosis.
• In tubular bones, external bone resorption of the metaphysis is
excessive (excessive metaphyseal cutback), and internal bone
resorption of the diaphysis is augmented (excessive diaphyseal drift).
As a result, the metaphysis is constricted, while the diaphysis is
expanded. In general, the more prominent the growth potential of a
bone, the more severe its metaphyseal constriction.
• Likewise, nontubular bones show accentuation of their eccentric
modeling. For example, the distal ilia are constricted owing to a
prominent cutback of the supra-acetabular region and greater sciatic
notches, and posterior scalloping of the vertebral body occurs as a
result of increased absorption on its posterior surface.
PATHOGENESIS OF MANIFESTATIONS :
Radiological approach :
First Step.—

Skeletal changes that can lead to a diagnosis of dysostosis multiplex include :

• Macrocephaly
• Thick calvaria
• J-shaped sella
• Thick ribs with constriction of the posterior costal end
• Thick clavicles with constriction of the distal ends
• Hook-shaped vertebral bodies with posterior vertebral scalloping
• Flared iliac wing with overconstriction of the distal ilia (comma-shaped ilia and
wine glass appearance of the inner pelvic rim), Coxa valga
• Metaphyseal constriction and diaphyseal broadening of the long bones
• Proximal metacarpal pointing
• Bullet-shaped phalanges
Second Step.—

The overall severity of the dysostosis multiplex phenotype can help predict
the diagnosis of a subtype, which is confirmed by using an enzyme assay
and/or molecular analysis.
Hurler syndrome (type I MPS) and Maroteaux-Lamy syndrome (type VI
MPS) are the most severe, Hunter syndrome (type II MPS) and Morquio
syndrome (type IV MPS) are of intermediate severity, and Sanfilippo
syndrome (type III MPS) is the mildest in severity.
Morquio syndrome has distinctive skeletal changes, including
platyspondyly and epiphyseal dysplasia .
Epiphyseal dysplasia is also seen in type III mucolipidosis and Maroteaux-
Lamy syndrome.
TYPES OF MPS :

1. MPS IH : Hurler Syndrome

2. MPS II : Hunter Syndrome
3. MPS III : Sanfilippo Syndrome
4. MPS IV : Morquio Syndrome
5. MPS VI : Maroteaux Lamy Syndrome
6. MPS VII : Sly syndrome
7. MPS IX : Natowicz Syndrome
 MPS I- HURLER SYNDROME
o Autosomal recessive disorder of mucopolysaccharide

metabolism that leads to excessive lipoidal

accumulation in central nervous system and other viscera.

o Age of manifestation -babies with MPS 1 appear normal at

birth with both clinical and radiographic features

manifesting over first two years

A. J-Shaped Sella Turcica

B. Thoracolumbar Kyphosis +

anterioinferior beaking

C. Paddle Ribs.

D. Metacarpals and phalanges->

short + wide
 .

Lateral radiograph shows:

o Rounding of the vertebral bodies at multiple
Paddle or spatulated appearance Ribs.
levels and
o Beak-like osteophytes extending anteriorly
from the inferior portion of several upper
lumbar vertebrae.
 MORQUIO’S SYNDROME (MPS IV)

• MPS IV shows similarities to MPS Ⅰ such as :

o Short stature

o Dorsolumbar kyphosis in spine

o Atlanto-axial instability.

• MPS Ⅳ have normal sized sella (unlike MPS 1)

Radiographs of spine (A, B) show

o Platyspondyly
(arrow, A)

o Central beaking
(arrow, B).
The hands typically show pointing of
the base of second to fifth
metacarpals and
distal ends of phalanges.

o There is additional delayed and

irregular ossification of carpals and
tarsals (C)
o There is also delayed ossification of
fem oral heads with poorly
dev elo ped ace tab ula le a d ing to
prem ature arthropathy m im icking
SEDC (D)
 ACHONDROPLASIA FAMILY

o It is the most common non – lethal dysplasia.

o It is a prototype of Rhizomelic dwarfism.

o There is defect in endochondral bone formation.

o Autosomal Dominant inheritance.

o Age of manifestation: Typical features of achondroplasia are obvious at birth.

Radiologic Approach
First Step.—The radiologic hallmarks of the achondroplasia family include :
• Shortening of the skull base
• Narrow thorax;
• Platyspondyly;
• Narrow caudal interpediculate distances;
• Iliac hypoplasia with a trident appearance of the acetabulum (trident ilia; corniculate
protrusion of the lateral, middle, and medial acetabulum ;
• Ovoid lucency of the proximal femora (frontal view or proximal femoral scooping
(lateral view); and
• Stubby tubular bones with metaphyseal cupping, flaring, and corner spur.
Second Step.—
• The manifestations of thanatophoric dysplasia, achondroplasia,
and hypochondroplasia are quite homogeneous among themselves and
readily distinguishable from each other. Intermediate phenotypes are rare.
• Achondroplasia and thanatophoric dysplasia manifest with all of the radiologic
findings just described.
• However, thoracic hypoplasia, platyspondyly, and shortening of tubular bones
are more severe in thanatophoric dysplasia.
• The common subtype of thanatophoric dysplasia (type 1) manifests with
distinctive French telephone receiver–like bowing of the femurs, whereas type 2
shows straight femurs and severe craniosynostosis with cloverleaf-shaped
deformity.
• Hypochondroplasia demonstrates only mild iliac hypoplasia and mild lucency of
the proximal femurs or mild proximal femoral scooping
Essential radiographic features
include:-

o Symmetric shortening of all

long bones.
o Proximal portions being more
affe cte d and lower limb
involvem ent being more than the
u p p e r limb (r hizom e lia).
( Lower limb > Upper limb)
( Proximal > distal)

o The re 's relative flaring

and splaying of m etaphyses with
norm al ep ip hyse s
The chevron sign refers to
an inverted V-shape physis noted
in children with achondroplasia. It
is most commonly seen in
the metaphysis of distal femur
and tends to disappear with age

TRIDENT
HAND
The hands are
short with stubby
fingers, with a
separation
between the
middle and ring
fingers.
Champagne glass pelvis

o The iliac blades are flattened

giving rise to a e le p h an t ear sh ap ed iliac wings.

o Pelvis is short & broad giving

champagne glass appearance.

o The acetabular angles are flattened (horizontal )

 The acetabular angle is the angle formed by a horizontal plane of pelvis defined by a line connecting both
triradiate cartilages & a second line that extends through the lateral aspect of the acetabular roof.

The acetabular angle should be ~30° at birth and progressively reduce with the maturation of the joint.
In spine:
o There is progressive decrease in the
interpedicular distance cranio-
caudally in the lumbar spine.
The decrease in distance becomes
more conspicuous with age .

o Bullet-shaped vertebrae
There is posterior scalloping of
vertebral bodies while anteriorly
they may appear rounded.

o MUCOPOLYSACCHORIDOSIS:
(HURLER’S & MORQUIO’S )
o CONGENITAL HYPOTHYROIDISM
AP radiograph of skull showing:

o Large skull with prominent forehead and mid

face hypoplasia

o There could be narrowing of skull base

with narrowing of foramen magnum.

o There is compen satory over-expan sion

of the skull vault and frontal region s to

accommodate the expan din g b r ain .

 HYPOCHONDROPLASIA
RADIOGRAPHIC FEATURES:

• Spine and limb changes are similar to achondroplasia with decreased

interpedicular distance in lumbar spine. But other vertebral changes are mild

and spinal stenosis is less common. Limbs also show shortening but in addition

to rhizomelia, mesomelia can also be seen. Unlike Achondroplasia

• Short and broad femoral neck. ❑ NO TRIDENT HAND

❑ SKULL IS NEVER
• Distal fibula overgrows compared to tibia.
AFFECTED
• Involvement of all metacarpals .
 PSEUDO ACHONDROPLASIA
o Vertebrae have a persistent oval shape in
childhood with a tongue-like protusion from the
anterior aspect of vertebral bodies giving rise
to central anterior tongue appearance .

o Platyspondyly is also seen.

 THANATOPHORIC DYSPLASIA

o MC of lethal dysplasias

o Severe rhizomelia

o Macrocephaly

o Decreased thoracic circumference.

o Normal trunk length.

o Platyspondyly / U / H – shaped vertebra with relative increase in height of disc spaces.

Cloverleaf
skull

Lateral temporal
bulging

H/ U shaped vertebra
(Posterior elements are
normal)

Telephonic
femur
RADIOGRAPHIC FEATURES:

o There is progressive distal

shortening of limbs leading to

mesomelia and acromelia

o Hexadactyly in hands and feet.

The pelvis is short with flared iliac wings and hook like projection
arising from acetabulum forming Trident acetabula
 OSTEOGENESIS IMPERFECTA

• Osteogenesis imperfecta (OI) is most often (in 95% of cases) caused by

abnormalities in the triple helical domain of type I collagen, which impair
intramembranous ossification and cause bone fragility .
• In addition to type I collagen genes, many other genes of OI have been
reported. OI is commonly accompanied by nonskeletal manifestations, including
joint laxity, soft-tissue fragility, blue sclerae, dentinogenesis imperfecta, and
hearing impairment, since type I collagen is a major component of the matrices
of soft tissues as well as bone.
• The classic system for classification of OI initially published by Sillence et al (62)
(type 1, mild; type 2, lethal; type 3, severely deforming; type 4, moderately
deforming; type 5, hyperplastic callus formation) is still valid clinically.
Radiologic Approach
First Step.—
The radiologic diagnosis of disorders in the OI family relies on identification of generalized
osteoporosis and the exclusion of secondary osteoporosis . Impaired calvarial
intramembranous ossification causes large fontanels and multiple wormian bones. The
manifestation of tubular bones is variable, since remodeling for multiple fractures can create
gross deformities.

Second Step.—
Mild to moderate OI (types 1 manifests as slender tubular bones with recurrent fractures and
bowing. Milder cases may involve nearly normal tubulation, in that dual-energy x-ray
absorptiometry scanning is mandatory to confirm decreased bone mineral density.
Severe OI (lethal types 2A and 2B, as well as progressively deforming type 3 manifests as thick
crumpled (accordion-like) tubular bones as a result of in utero fractures or healing.
In contrast, type 2C OI (abnormalities of nontriple helical domain of type I collagen) manifests
as slender twisted long bones with metaphyseal sclerosis.
Patients with type 3 OI may develop popcorn-like calcifications in the epimetaphysis of the
long bones in childhood, probably owing to repeated physeal injuries.
OI type 5 , which is not related to type I collagen genes, manifests with a hyperplastic callus
and ossification of the interosseous membrane. Dense-bone OI (abnormalities at the junction
between the triple helical and nontriple helical domains of type I collagen), unlike other OI
types, shows increased bone density and coarse sclerotic trabeculae
• RADIOLOGICAL FEATURES:

(1)

➢ OI is characterized by a triad of:

o Diffuse osteopenia

o Pencil-thin cortices

o Multiple bony fractures.

➢ The fractures are usually multiple

and heal with callus formation giving

rise to “pseudotumour” formation.

➢ Gracile bones- abnormally curved.

(2) The vertebrae are:
o Osteopenic
o show codfish appearance
o Areas of collapse.

(3) The skull shows:

o Multiple wormian bones,
o Lucent calvarium,
o Enlarged sinuses
o Platybasia.

(4) The pelvis is:

abnormal in shape
with deformities like:
o Protusio acetabuli
o Shepherd crook femurs.
 •Differential diagnoses of
• Differential diagnoses of
codfish vertebra “OS”
Osteogenesis Imperfecta

o Osteoporosis
➢ Battered baby syndrome
o Osteogeneis imperfecta
➢ Hypophosphatasia
o Osteomalacia
➢ Juvenile idiopathic
o Osteodystrophy Renal
osteoporosis
o Sickle cell disease: more usually an H-
➢ Osteomalacia
shaped vertebra
➢ Rickets
o Spherocytosis Hereditary
•Differential diagnoses of Wormian bones: “PORKCHOPS”

P -> Pyknodysostosis

O -> Osteogenesis imperfecta

R -> Rickets

K -> Kinky hair syndrome

C -> Cleidocranial dysostosis

H -> Hypothyroidism Hypophosphatasia

O -> Otopalatodigital syndrome

P -> Primary acroosteolysis Pachydermoperiostosis Progeria

S -> Syndrome of Downs

Spondyloepiphyseal Dysplasia Congenita and Stickler-Kniest Families :

A group of disorders due to abnormal type II and XI collagens, collectively

termed type II and XI collagenopathies, represents a common skeletal
dysplasia family. These disorders are further subdivided into two families.

The first is the spondyloepiphyseal dysplasia congenita (SEDC) family, which

includes prototype SEDC, more severe hypochondrogenesis, and most
severe achondrogenesis type 2. Familial Legg-Calvé-Perthes disease is the
mildest phenotype of this family.

The second group of type II and XI collagenopathies is the Stickler-Kniest

family, which includes more severe Kniest dysplasia and milder Stickler
dysplasia .

Type II collagen is a major component of the cartilage matrix. The clinical

consequences of abnormal type II collagen include short stature
predominantly affecting the neck and trunk, as well as midface hypoplasia
with micrognathia and cleft palate. Type II collagen is also an essential
component of the ocular vitreous body and inner ears; thus, myopia with
retinal detachment and hearing impairment are common clinical findings.
Radiologic Approach
First Step.—
A primary characteristic of the first family, SEDC disorders is delayed
ossification of the juxtatruncal bones (vertebral bodies, pelvic bones, and
proximal epiphyses of long bones). This abnormal ossification pattern is
best seen in the manifestations of
• Pear-shaped vertebrae (posteriorly constricted and anteriorly rounded
vertebral bodies due to retarded vertebral ossification, especially in
the posterior portion ;
• Absent pubic ossification; and delayed epiphyseal ossification,
especially of the proximal femurs.
• The long bones are stubby, while the short tubular bones are not short.
Odontoid hypoplasia with atlantoaxial instability is another hallmark of
SEDC family disorders.

The unique feature of the second family, Stickler-Kniest dysplasias, is

transverse overgrowth of the physis, giving rise to a “dumbbell” deformity
of tubular bones with mega-epiphyses, elongated vertebral bodies, and
broad ilia . Epiphyseal ossification of long bones is delayed, while tarsal
ossification is not.
Second Step.—
Further details can help narrow down the diagnosis of type II and XI collagenopathies.
Achondrogenesis type 2 Manifests as absent ossification of all juxtatruncal bones
(vertebral bodies, ischia, and pubic bones) and metaphyseal cupping of the long
bones due to retarded ossification of the bone ends . Hypochondrogenesis and
SEDC are a continuum radiologically .

Kniest dysplasia manifests with striking dumbbell deformity and platyspondyly with
coronal clefts at the thoracolumbar junction, whereas Stickler dysplasia shows only
modest metaphyseal broadening and spondylar modification and is frequently
associated with severe micrognathia (Pierre-Robin sequence) .

Type XI collagenopathies display dumbbell deformity and spondylar dysplasia . The

similarities between the type II and XI collagenopathy groups are due to biologic
interactions between type II and XI collagens. However, coronal clefts tend to be diffuse
in type XI collagenopathies.
 SPONDYLOEPIPHYSEAL DYSPASIA (SED)
1. SED CONGENITA:
• Autosomal dominant due to mutation of COL2A1 on Chr 12q13.1 affecting Type II collagen.
Clinical Features :
• Delayed ossification of epiphysis – Epiphyses of knees, shoulders, hind foot, pubic rami and ischial bones
and carpal and tarsals.
• Absent epiphyses of knee and calcaneum at birth.
• Absent pubic bones at birth with horizontal roofs of acetabula and short and broad iliac wings.
• Oval , pear shaped vertebral bodies at birth which later flatten leading to platyspondyly and thinned
intervertebral disc -> Kyphoscoliosis, lumbar lordosis.
• Odontoid hypoplasia with cervical spine instability
• Large and dolicocephalic skull .
Radiograph of pelvis shows :
o Small femoral epiphyses (white arrow),
o Horizontal acetabuli (black arrow)
o Short iliac wings (a)
o Second radiograph showing delayed appearance of
femoral head epiphysis
 Radiograph of skull (D) shows relatively
enlarged calvarium (arrow).

o Radiographs of lower limbs show

relatively short femurs and small
epiphyses
o secondary metaphyseal irregularity
(arrow, F).
• Spine:
• Anisospondyly: (Varying shape and size of the vertebral bodies)

• Platyspondyly .
2) SED TARDA:
• X-linked recessive

• Only present in males

• Child is normal at birth with changes seen at 5-10 years of age

• Platyspondyly with heaping up or hyperostosis of posterior 2/3rd of vertebral end plates giving

Heaped up or Humped up appearance

• Mild to moderate epiphyseal irregularity with early osteoarthritis at hips, knees and ankle
(A)Hy perostotic deposit posterior 2/3 of

vertebra causing heaped up

con figuration.
Differential diagnosis of SED:

CONGENITA TARDA

o Morquio syndrome o Morquio syndrome

o Kneist dysplasia o Multiple epiphyseal dysplasia

o Spondylo-epi-metaphyseal dysplasia

o Perthes disease

o Cretinism
Unlike SED, in Morquio’s syndrome patients –
o The vertebral bodies are flattened with central beaking.
o Hand and feet abnormalities are also seen.

Kneist dysplasia – rare,

micromelic type with dumbbell
shaped femora

Perthes disease: Bilateral Perthes disease

“Bilateral femoral head epiphysis fragmentation”
ED[ SED/MED ]: B/L PERTHES:
o Symmetric EF o Asymmetric distribution with
o Osteonecrosis restricts different stages of progression.
to epiphysis & not cross o Osteonecrosis is present in its
the physis. different stages
of progression & often cross physis in
form of metaphyseal cysts
SPOTTERS:
CLEIDOCRANIAL DYSPLASIA
ACHONDROPLASIA
MIXED BAG :
A.SKULL :
B. VERTEBRAL CHANGES :
 Vertebral appearances in dysplasias:
❑ Bullet shaped – Achondroplasia .
❑ Coronal cleft vb - CDP .
❑ Sandwich appearance – Osteopetrosis .
❑ Bone within bone- Osteopetrosis .
❑ Spool shaped – Pyknodystosis .
❑ H shaped – Thanatophoric dysplasia .
❑ Codfish appearance – Osteogenesis imperfecta .

Beaking
Anteroinferior: Central:

Hurler’s disease Morqui’s disease Pseudochondroplasia

Platyspondyly - Platyspondyly +
C. RIB CHANGES :
 • APPENDICULAR Skeleton-
Limbs to be assessed for:
TYPE OF BONE LOCATION OF
SHORTENING - ABNORMALITY

(parts of limb involved)

➢ Rhizomelic : involvin g p r oxim al parts of limb o Epiphyseal
o Metaphyseal
i.e. femur/ humerus
o Diaphyseal
➢ Mesomelic : involving middle parts of limb

i.e., radius/ulna; tibia/fibula

➢ Acromelic : involving hands and feet

➢ Micromelic : generalised shortening of entire limb

PELVIC CHANGES :
 Pelvis
o Champagne glass -> Achondroplasia
o Mickey mouse -> Down’s syndrome
Acetabula
o Trident acetabuli – EVS
o Protrusia acetabuli – Osteogenesis
Imperfecta
o Horizontal acetabuli

SED Congenita v Achondroplasia

Iliac wings Patella

o Wide flared-> MPS 1 Absent/ Hypoplastic Double

o Short ilia -> SED Congenita

Nail patella syndrome MED
o Square ilia -> Pseudoachondroplasia
RHIZOMELIA: MESOMELIA:

o SED o Chondroectodermal dysplasia

o Achondroplasia o Mesomelic dysplasia
o CDP – Rhizomelic type
o Thanatophoric dysplasia
Acromelia :
o Osteogenesis imperfecta

o Asphyxiating thoracic dystrophy/Jeunes

syndrome
o Peripheral dysotosis