DR NAVNI GARG

MBBS, DNB (RADIOLOGY)

CLASSIFICATION OF SKELETAL
ABNORMALITIES

 Osteochondrodysplasias (skeletal dysplasia)

 Dysostoses
 Idiopathic osteolysis
 Primary disturbances of growth
 Constitutional diseases of bone with known
pathogenesis (chromosomal, metabolic etc.)
OSTEOCHONDRODYSPLASIA DYSOSTOSES
- Abnormalities of bone - Altered blastogenesis in
and/or cartilage growth first 6 weeks of IU life
- Because of abnormal - Phenotype fixed
gene expression - Donot evolve to involve
- Phenotypes continue to normal bones
evolve throughout
lifespan
 Skeletal dysplasia

 Heterogeneous group of disorders

characterised by abnormal shape, size,
growth, number and density of bones
 Affects the growth and development.
 Disproportionate long bones, spine, and
skull
Osteochondrodysplasias
Classification
I. Defects of growth of tubular bone and/or
spine
A. Identifiable at birth
B. Identifiable later in life

II. Disorganized development of cartilage and

fibrous components of skeleton

III. Abnormalities of density of cortical

diaphyseal structure and/or metaphyseal
modeling
 I. Defects of growth of tubular
bone and/or spine
A. Identifiable at birth
 Thanatophoric dysplasia
 Chondrodysplasia punctata
 Achondroplasia
 Chondroectodermal dysplasia
 Spondyloepiphyseal dysplasia congenita
 Cleidocranial dysplasia
 Achondrogenesis
 Metatrophic dwarfism
 Diastrophic dwarfism
 Asphyxiating thoracic dysplasia (jeune syndrome )

A. Identifiable later in life

 Hypochondroplasia
 Metaphyseal chondrodysplasia
 Multiple epiphyseal dysplasia
 Pseudoachondroplasia
II. Disorganized development of
cartilage and fibrous components
of skeleton
 Multiple cartilaginous exostoses
 Enchondromatosis (olliers
disease)
 Fibrous dysplasia
 Dysplasia epiphysealis
hemimelica
III. Abnormalities of density of
cortical diaphyseal structure
and/or metaphyseal modeling
 Osteogenesis Imperfecta
 Osteopetrosis
 Pycnodysostosis
 Osteopoikilosis
 Melorheostosis
 Diaphyseal dysplasia
 Metaphyseal dysplasia
 Osteopathia striata
ASSESSMENT OF SKELETAL
DYSPLASIA
 PRENATAL (ULTRASOUND)

 POST NATAL
DISPROPORTION
GENERAL EXAMINATION
RADIOLOGY
PRENATAL ASSESSMENT
SKULL

 Head circumference and BPD : to exclude

macrocephaly
 Shape, mineralization, and degree of
ossification
 Interorbital distance measured to exclude
hyper- or hypotelorism
 Other features such as micrognathia, short
upper lip, abnormally shaped ears, frontal
bossing, and cloverleaf skull should be
assessed
CHEST
1.Look for markers of Pulmonary hypoplasia

 Chest circumference less than the 5th

percentile for gestational age
 Chest–trunk length ratio less than 0.32
 Femur length–abdominal circumference ratio
less than 0.16
Hypoplastic thorax occurs in – lethal dysplasia
e.g.
 Thanatophoric dysplasia
 Achondrogenesis
 Osteogenesis imperfecta
 Camptomelic dysplasia
 Chondroectodermal dysplasia
 Asphyxiating thorasic dysplasia
2. Absent clavicle : CCD
3. Absent scapula : Camptomelic dysplasia
SPINE

 Relative total length

 Curvature : to exclude scoliosis
 Mineralization of vertebral bodies and neural
arches
 Look for platyspondyly (flattened vertebral
body shape with reduced distance between
the endplates) : Thanatophoric dysplasia
SPINE : Platyspondyly
LONG BONES

- Long bones lengths

- Absence and malformation
- Hypoplasia : Rhizomelia, Mesomelia, Rhizo-
mesomelia, Acromelia
- Curvature, degree of mineralization and
fractures
- Femur length–foot length ratio (normal = >1,
<1 suggests skeletal dysplasia ) (14-40 wks)
HANDS AND FEET
 Pre- or postaxial polydactyly (presence of
more than 5 fingers)
 Syndactyly :soft tissue or bony fusion
 Clinodactyly : Deviation of finger
 Any other deformities : hitchhiker’s thumb,
rocker-bottom feet, and clubbed feet or
hands
POLYDACTYLY
DIASTROPHIC DYSPLASIA
PRENATAL ASSESSMENT CONCLUSION
DISPROPORTIONAL LIMBS

1. Does the abnormality affect the proximal (rhizomelic),

middle (mesomelic), or distal (acromelic) segment?
2. Is polydactyly, clinodactyly, or syndactyly present?
3. Are there any fractures, curved bones, or
joint deformities, or clubbing of the foot or hand?
4. Are metaphyseal changes present?
5. Is there a premature appearance of ossification centers?
6. Are there any hypoplastic or absent bones?
SPINE INVOLVEMENT

1. Is the spine short because of missing parts

(eg, sacral agenesis)?
2. Is there abnormal curvature? (Scoliosis)
3. Is there shortening of vertebral bodies?
4. Are all parts of the spine equally affected?
(achondrogenesis)
5. Is platyspondyly present (thanatophoric
dysplasia)?
THORAX INVOLVED

1. Is the thorax extremely small (thanatophoric dysplasia)?

2. Is the thorax long and narrow (Jeune syndrome)?
3. Are the ribs extremely short (short-rib
polydactyly)?
4. Are fractures present (osteogenesis imperfecta type II)?
5. Is there clavicular aplasia, hypoplasia, or partitioning
(cleidocranial dysostosis)?
6. Is the scapula normal or abnormal (camptomelic
dysplasia) ?
POSTNATAL ASSESSMENT
POSTNATAL
ASSESSMENT I :
Upper/lower segment ratio:
DISPROPORTION

• 1.7 newborn
• 1.0 ages 2-8yrs
• 0.95 adult
Short trunk dwarfism : metatrophic dysplasia,
SED

Short limb dysplasia : achondroplasia,

metaphyseal chondrodysplasia
 Sitting height : ascertains trunkal shortening
Limb lengths:
• Rhizomelia
(humerus and femur)
• Mesomelia
(radius, ulna, tibia and
fibula)
• Acromelia (Hands
and feet)
Spine: assess for

 scoliosis
 kyphosis
 lordosis
POSTNATAL ASSESSMENT II
GENERAL EXAMINATION
 General examination: facial features, hair
quality, dental health, nails
 Systemic features: renal problems, cardiac
abnormalities
 Developmental history: Most normal
 Family history
 Ethnicity: SEMD with joint laxity in SA
CLINICAL SETTING

 Mental retardation - Chondrodysplasia punctata

 Dental deformities - CCD

 Disproportionately large head - Achondroplasia

,thanotophoric dysplasia

 Congenital cataract - Chondrodysplasia punctata

 Myopia - SED congenita

 Renal involvement – Asphyxiating thoracic dysplasia

POSTNATAL ASSESSMENT III
Radiology : skeletal survey
 Skull (AP and lateral) to include atlas and axis
 Spine (AP and lateral)
 Chest (AP)
 Pelvis (AP)
 One Upper limb (AP)
 One Lower limb (AP)
 Hand (bone age) AP
 Feet (AP)
Additional views
 Lat knee for patella
 Lat foot for calcaneum

In cases with epiphyseal stippling/limb asymmetry- B/L limbs

 In preterm fetuses and stillbirths, babygram
i.e. anteroposterior (AP) and lateral films
from head to foot

 Imaging of other family members suspected

of having same condition
WHAT TO LOOK FOR

 A – Anatomical localisation : axial /

appendicular/ combinations
 B – Bones
 C – Complications
A - Anatomical localization
Axial skeleton

Skull Cranio/cranial - Achondroplasia, CCD

Mandible
Clavicle Mandibulo - Pyknodysostosis
Ribs Cleido - CCD
Spine Costo - ATD, Thanatophoric
Spondylo/vertebral - SEDC
Achondroplasia, MPS
Pelvis
Ischio/ilio/pubic - Achondroplasia, MPS
Anatomical localization
Appendicular skeleton
Location Epiphyseal - Chondrodysplasia punctata, SED,

Hemimelica, Multiple epiphyseal dysplasia

Metaphyseal – Achondroplasia, Achondrogenesis,
ATD, Chondroectodermal dysplasia
Diaphyseal - Engleman’s disease
Shortening Rhizomelic - Achondroplasia, hypochondroplasia,
pseudochondroplasia, SEDC,
metaphyseal dysplasia, thanatophoric
Chondrodysplasia punctata,
Mesomelic - Mesomelic dysplasias

Acromelic - Acrodysostosis, ATD

 Epiphyseal dysplasia –
hypoplastic, irregular
epiphyses
 Metaphyseal dysplasia
–widened, flared or
irregular metaphyses
 Diaphyseal dysplasia –
cortical thickening or
marrow space
expansion or reduction
 Epiphyseal dysplasia

 Metaphyseal dysplasia
Stippled epiphysis in
Chondrodysplasia punctata
 Irregular or stippled epiphysis differential
diagnosis

• Congenital hypothyroidism
• Morquio’s syndrome
• Multiple epiphyseal dysplasia
• Trisomy 18 , 21
• Prenatal infections
• Warfarin embryopathy
Cone shaped epiphysis in
trichorhinophalangeal syndrome
Flaring of metaphyses in
metaphyseal dysplasia
(pyles disease)
 ERLENMEYER FLASK DEFORMITY
DIFFERENTIAL DIAGNOSIS

• Thalassaemia
• Gaucher’disease
• Niemann pick’s disease
• Lead poisoning
• Osteopetrosis
DIAPHYSEAL DYSPLASIA
 Combinations:

 • Spondylo-epiphyseal dysplasia (SED)

 • Spondylo-metaphyseal dysplasia (SMD)
 • Metaphyseal-epiphyseal dysplasia (MED)
 • Spondylo-epiphyseal-metaphyseal
dysplasia(SEMD)
B - BONES
 Structure
 General appearance
 Tumorous lesions such as exostoses
 Metaphyseal striations : osteopathia striata
 Bone islands e.g. osteopoikilosis
Multiple exostoses
METAPHYSEAL
BONY ISLANDS
STRIATIONS
Shape
 Clover leaf skull : thanatophoric dysplasia
 Spatulated ribs : hurler
 Vertebral bodies
1. wafer thin, platyspondyly (Thanatophoric dysplasia)
2. hooked(MPS)
3. bullet shaped ( achondroplasia)
4. spool shaped : pycnodysostosis
5. coronal clefts : chondrodysplasia punctata
6. heaped up vertebrae : SED tarda
7. Posterior scalloping of vertebral bodies

 Acetabular roof
sloping (MPS)
horizontal roof (Achondroplasia)
 Telephone handle femora : thanatophoric dysplasia
THANATOPHORIC DYSPLASIA
Clover leaf shaped skull seen due to fusion
of the cranial sutures which cause lateral
temporal bulge
Hurler : spatulated/ paddle
appearance of ribs
Hurler syndrome :
Anteroinferior beaking
Morquio : central beaking
of vertebrae
Spool shaped vertebrae :
Pycnodysostosis
Achondroplasia : bullet
shaped vertebrae with
posterior scalloping
Coronal clefting in
Chondrodysplasia punctata
Hyperostotic bone in the posterior
2/3rd of the end plates -hump shaped
or heaping up vertebra in SED tarda
Posterior scalloping
• ACHONDROPLASIA
• MORQUIO SYNDROME
• HURLER SYNDROME
• NEUROFIBROMATOSIS

• INTRASPINAL TUMOUR
• MARFAN’S SYNDROME
• EHLER DANLOS SYNDROME
• ANKYLOSING SPONDYLITIS
• ACROMEGALY
Achondrodysplasia :
Horizontal acetabular roofs
Pycnodysostosis : oblique
roofed acetabulum
Thanatophoric dysplasia :
telephone receiver femora
Size
Absolute or relative

Small skull – craniosynostosis

Large skull – achondroplasia, MPS
Longer fibula – hypochondroplasia
Short fibula – CCD
Short ribs – asphyxiating thorasic
dysplasia
Asphyxiating thorasic dysplasia : small
thorax with short ribs , horizontally
oriented
Density

 Increased : Osteopetrosis , pyknodysostosis

 Decreased : Hypophosphatasia , OI
Osteopetrosis
Osteopetrosis : sandwich appearance of
vertebrae due to sclerosis (more at
end plates)
Pyknodysostosis : sclerosis
of calvaria and base of
skull
Melorheostosis : focal
sclerosis
 Sum : too many , too few

 Supernumerary teeth - chondroectodermal dysplasia

 Supernumerary / bifid ribs : CCD

 Multiple patellar centres - multiple epiphyseal dysplasia

 Multiple calcaneal centres - Larsen’s Syndrome

 Fused carpals - chondroectodermal dysplasia


 Soft
tissues
 Wasting
 Excessive soft tissues
 Contractures and calcification
(melorheostosis, hypophosphatasia)
Complications
 Achondroplasia – atlantoaxial instability
spinal canal stenosis
compression myelopathy

 Epiphyseal dysplasia – genu varum

 Fractures in osteogenesis imperfecta
 Morquios, SEDC – atlantoaxial instability
 Pseudoachondroplasia, OI, SED tarda – Early OA
 MPS – Kyphoscoliosis
 Limb length discrepancies as in Epiphyseal stippling,
dysplasia epiphysealis
 Malignancy e.g in Multiple cartilaginous exostoses
When to do CT and MRI
 For concurrent brain anomalies

 Atlantoaxial instability
Compressive myelopathy

 CT 3D reconstruction – Osteotomies
Cosmetic surgeries
Making a diagnosis

An accurate diagnosis requires a multidisciplinary

approach, i.e., combined clinical, pediatric,
genetic, biochemical, radiological and
pathological.
Rule out acquired causes of bone problems:
• Neuromuscular disorders
• Chronic diseases – JIA
• Poorly healed fractures
• Metabolic bone problem
Classification of bone dysplasias ( radiologically)
 Epiphyseal dysplasias
 Osteopenic dysplasias
 Chondrodysplasia punctata- dominant and
recessive type
 Multiple epiphyseal dysplasia
 Mucopolysaccharidoses and
mucolipidoses
 Dysplasia epiphysealis hemimelica  Osteogenesis imperfecta
 Spondyloepiphyseal dysplasia- congenital  Ehlers danlos syndrome
and tarda

 Metaphyseal dysplasia  Major involvement of spine

 Thanatophoric dwarfism  Spondyloepiphyseal dysplasia

 Asphyxiating thoracic dysplasia  Diastrophic dwarfism
 Chondroectodermal dysplasia  Spondylometaphyseal dysplasia
 Achondroplasia  Pseudoachondroplasia
 Hypochondroplasia
 Hypophosphatasia
 Single segment involvement
 Sclerosing dysplasias  Mesomelic dwarfism
 Cleidocranial dysplasia
 Osteopetrosis  Larsen syndrome
 Osteopoikilosis
 Osteopathia striata  Others
 Melorheostosis
 Pyknodysostosis
 Progressive diaphyseal dysplasia
 Diaphyseal aclasis
 Infantile cortical hyperostosis
 Enchondromatosis
 Fibrous dysplasia