1. Skeletal dysplasias are abnormalities of bone and cartilage growth or texture that are evaluated using skeletal surveys and radiographs. 2. Spondyloepiphyseal dysplasia congenita is characterized by bulbous vertebral bodies, delayed ossification of epiphyses, and shortening of the limbs, especially proximally. 3. Multiple epiphyseal dysplasia presents in childhood with difficulty walking and running due to bilateral and symmetric involvement of the hips, knees, and ankles leading to premature osteoarthritis.

1. SKELETAL
DYSPLASIAS - 1
Dr Anuradha R

2. • Aka osteochondrodysplasias- abnormalities of bone/cartilage growth
or texture
• Skeletal survey radiographs-

3. ABC s of evaluation
Anatomical localisation- appendicular / axial
rhizomelic skull
mesomelic spine
acromelic
micromelic
Bone density and shape
Complications- epiphyseal dysplasia leads to premature osteoarthritis
and deformities. Spondylodysplasias lead to early kyphoscoliosis

4. Radiological grouping
• GROUP 1- Epiphyseal dysplasia with or without spine involvement
• GROUP 2- Metaphyseal dysplasia with limb shortening
• GROUP 3- Dysplasia with altered bone density
• GROUP 4- Miscellaneous dysplasia

5. Group 1- EPIPHYSEAL DYSPLASIAS
• Spondyloepiphyseal dysplasia congenita
• Spondyloepiphyseal dysplasia tarda
• Multiple epiphyseal dysplasia
• Psuedoachondroplasia
• Chondrodysplasia punctata
• Dysplasia Epiphysealis Hemimelica
• Mucopolysaccharidosis

6. SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
• AD(affect type II collagen)
• Delayed ossification of epiphyses at birth
SPINE-
• Bulbous vertebral bodies- pear shaped vertebra
• Severe platyspondyly with narrow disc spaces
• Scoliosis; severe kyphosis; exaggerated lumbar
lordosis
• Odontoid hypoplasia – leading to atlantoaxial
instability

7. • PLATYSPONDYLY

8. Limbs
• Small femoral epiphyses
• Horizontal acetabuli
• Short iliac wings
• Rhizomelic shortening of limbs
Delayed ossification of the proximal
humeral epiphysis;
Small thorax
Hands and feets typically spared

9. • DD- Morquio’s syndrome
The features favouring Morquio’s syndrome include
• Keratosulfaturia
• Central beaking of spine with increased or maintained intervertebral
disc spaces
• Hands and feet are always abnormal in Morquio’s syndrome unlike
SEDC.

10. SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
• X linked recessive- only in males
• 5-10 years of age
• Short stature-due to platyspondyly,
more marked in thoracic region
• Hyperostosis of posterior 2/3rd of
vertebral bodies- hump shaped/
heaping up vertebra

11. • Bilateral flattened femoral heads,
short necks and premature
degenerative changes
• Small pelvis with mild-to-moderate
epiphyseal irregularity leading to
early osteoarthritis at hips

12. MULTIPLE EPIPHYSEAL DYSPLASIA (EDM)
• Presents when child begins to walk(2-
4 yrs)- waddling gait and difficulty to
run
• Bilateral, symmetrical involvement of
limbs- esp hips,knees,ankles
Bilateral and symmetric involvement of
the proximal femoral epiphyses. There
is secondary flaring of the metaphyses

13. • The fragmentation and deformity of the distal tibiae and tarsals is symmetrical.
• The distal radial and ulnar epiphyses are deformed as are the metacarpal growth
centers.
• The irregular epiphyses lead to premature and severe degenerative arthritis, especially
in the hips.

14. • Double-layered patella as seen on a lateral X-ray of knee is
considered highly pathognomic of EDM

15. PSUDOACHONDROPLASIA
• AD
• 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

17. CHONDRODYSPLASIA PUNCTATA
• Characterised by punctate or stippled calcification of multiple
epiphyses during 1st year of life(usually apparent at birth); later
epiphyses becomes irregular with limb asymmetry.
• Types – XD(Conradi Hunermann syndrome)-mc
-AR(Rhizomelic/lethal type)
-XR(Brachytelephalangic)
-Related to warfarin embryotoxicity
-Babies born to mothers with SLE

18. Conradi-Hunermann Syndrome
• Asymmetrical features- limb shortening and deformity;
• Very short humerus
• Prominent spinal changes
• Coronal cleft vertebra
• Stippling at end of long bones and short tubular bones
• Metaphyses and diaphysis normal
• Flat face with a saddle nose

19. • Characteristic stippling throughout the spine and
extremities.
• Hepatosplenomegaly.
• Asymmetric limb shortening.

21. Rhizomelic/ lethal/ recessive type
• There is symmetric shortening of the
limbs, particularly proximally and more
frequently in upper limbs
• The metaphyses are often flared, and the
long bones are bowed.
• Stippling of the spine is usually absent
and spinal deformity is not as severe as
in Conradi-Hunermann syndrome

23. Dysplasia Epiphysealis Hemimelica / Trevors disease
• Focal asymmetric overgrowth of epiphysis in the lower extremity is
the characteristic feature
• Three categories: localized form (monostotic involvement), classical
form (more than one area in a single lower extremity), and a
generalized (involvement of an entire lower extremity)
• Mc involves distal femur, distal tibia and talus- medial side of
epiphysis more commonly involved than lateral side
• Histologically, lesions are identical to osteochondroma

25. MUCOPOLYSACCHARIDOSIS
• MPS-I (MPS-I-H): Hurler’s syndrome.
• MPS-IV: Morquio’s syndrome.

26. HURLERS SYNDROME
SKULL
• Macrocephaly
• Frontal bossing
• Premature closure of sagittal and
lambdoid suture
• Thickened calvarium
• J shaped sella (enlargement of
pituitary gland due to deposition of
GAG)

27. • RIBS- Paddled ribs(abnormally wide
anteriorly)
• Varus deformity of humerus, hypoplastic
lateral end of clavicle, small scapula
• Short and wide metacarpals and phalanges-
simulate Trident hand
• Proximal tapering of metacarpals and distal
tapering of phalanhges

28. SPINE-
• Hypoplastic L1 or L2 vertebra with antero-inferior
beaking
• Platyspondyly is absent
• Dorsolumbar kyphosis
PELVIS
• Flaring of iliac wings with distal
tapering
• Shallow acetabula

29. MORQUIOS SYNDROME
Vertebrae-
Platyspondyly with central
beaking
• Disc space normal or increased
• Odontoid agenesis
• Kyphosis

30. • Pectus carinatum- horizontally oriented
protruberant sternum
Limbs-
epiphyseal irregularity and metaphyseal
widening
Proximal pointing of metacarpals

31. METAPHYSEAL DYSPLASIAS
• Achondroplasia
• Pyles disease/ Familial metaphyseal dysplasia
• Hypochondroplasia
• Chondroectodermal dysplasia
• Thanatophoric dysplasia
• Metaphyseal chondroplasia

32. ACHONDROPLASIA
• Mc non lethal dysplasia
• Prototype of rhizomelic dwarfism
• AD inheritance- spontaneous mutation on FGFR3 gene
• Pathology- failure of enchondral cartilage growth at physis
• Typical features are obvious at birth- spine, pelvis, skull and limbs

33. Limbs
• Upper >lower
• Rhizomelic shortening
• The bone ends are often splayed, with
metaphyseal cupping.
• Because periosteal ossification proceeds
normally, there is relative widening of the
shafts.

34. • The tubular bones of the hands and feet are short and
thick.
• The fingers are all the same length, with separation of
the middle and ring fingers and inability to approximate
in extention (trident hand)
• CHEVRON deformity- inverted V shaped distal
femoral physis

36. PELVIS
• Short and broad pelvic cavity- Champagne glass pelvis
• Squaring of iliac wings with rounded corners- Elephant ear shaped
iliac wings
• Horizontal and flat acetabuli
• Small sacrosciatic notch; large, anteriorly protruding sacral
promontory

38. Spine
• Progressive decrease in interpedicular distance cranio-caudally in LS
• Posterior scalloping of vertebral bodies; thick short pedicles
• Anteriorly rounded – Bullet shaped vertebra
• Dorsolumbar kyphoscoliosis in sitting position ; exaggerated lumbar
lordosis on standing up
• Prone for premature spinal canal stenosis

40. Skull
• Narrow skull base with narrowing of
foramen magnum
• Compensatory overexpansion of skull
vault
• Midface hypoplasia and depressed
nasal bones

41. Complications
• Small foramen magnum and hydrocephalus- cord compression and
sudden death
• Spinal canal stenosis, Quadriparesis

42. PYLES DISEASE/FAMILIAL METAPHYSEAL DYSPLASIA
• Skeleton of a newborn with Pyle’s disease may be overly radiopaque,
simulating osteopetrosis.
• Splaying of proximal metaphyses- Erlenmayer flask deformity
• Hands and feet show metaphyseal flaring in the small tubular bones.
• Lower extremity is more markedly affected than the upper
• The most commonly involved bones are the distal femur, tibia
(proximal and distal), and proximal fibula. In the upper extremity,
involvement of the distal radius, ulna, and proximal humerus is most
frequent

44. HYPOCHONDROPLASIA
• Milder form of Achondroplasia
• Presents after 2-4 years of age as short stature and limb shortening
• Limbs- in addition to rhizomelic shorterning, mesomelic may also be
seen
• Skull, pelvis hands are normal

45. Chondroectodermal dysplasia/ Ellis-Van Crevald syndrome
The condition can be noted at birth with dysplastic
nails, teeth, polydactyly and congenital cardiac
defects, most common being common atrium and
atrioventricular cushion defects
LIMBS
• Distal shortening of limbs leading to mesomelia
and acromelia

46. • Post axial hexodactyly in hands and
feets
• Fusion of carpal bones(Syncarpalism)
mostly involving capitate and
hamate

47. • Narrow thorax with short ribs
• The pelvis is short with flared iliac wings,
narrow base and hook like projection from
acetabulum forming trident acetabula

48. THANATOPHORIC DYSPLASIA
• Lethal dysplasia(2nd mc lethal dysplasia after osteogenesis
imperfecta type 2)
• Severely short arms and legs
• type I: marked underdevelopment of skeleton, telephone handle femurs more
pronounced
• type II
• the presence of a cloverleaf skull may be a distinctive feature
• limb shortening milder and bowing is not a feature

49. • proximal portions of the long limbs are
small, giving a rhizomelic appearance
• long bones (humeri and femora) have a
typical "telephone handle" bowing
with metaphyseal flaring
• Narrow chest, short ribs and scapula
• Small squared iliac wings
• Relative macrocephaly; frontal bossing
• Clower leaf skull (type 2)
• Platyspondyly

50. MISCELLANEOUS GROUP
• Cleidocranial dysplasia
• Fibrodysplasia ossificans progressiva
• Holt-Oram syndrome
• Marfans syndrome
• Nail- Patella syndrome
• Tuberous Sclerosis
• Craniosynostosis

51. CLEIDOCRANIAL DYSPLASIA
• Uncommon AD disorder- faulty ossification of intramembraneous and
enchondral bone
• C/f-
• large head, small face and drooping shoulders;
• Chest is narrowed or cone shaped.
• Mental status is normal.
• Gait disturbances owing to deformities of the hips and femur
• Abnormal dentition with severe caries and periodontitis
• Hearing loss due to structural abn of ossicles

52. SKULL
• Multiple Wormian bones are formed in the sutures
• Persistent Metopic suture
• Brachycephaly(increase transverse dia)
• Widening of the principal sutures (sagittal and coronal)-hot cross bun
appearance.
• The supraorbital region, temporal squama, and occipital bone are
frequently thickened.

54. FACE
• Underdeveloped facial bones – small face
• Failure of ossification of nasal bones, hypoplastic PNS
• Small maxilla, large mandible
• High arched palate
• Delayed dentition

55. THORAX
• Anomalous clavicular development
• The clavicle is formed from three separate ossification centers
(sternal, middle, and acromial). Because one or more of these centers
can be affected, there is considerable variation in the clavicular
involvement.
• In 10% of cases the clavicle is completely absent.
• The scapulae are often small, winged, or elevated.
• The shoulder girdle deformities allow great mobility of the shoulders.
• Chest is narrow and cone shaped.

58. PELVIS
• The bones of the pelvis are small and
underdeveloped, forming a small
pelvic bowl.
• Midline defect at the pubic symphysis-
where the rami fail to approximate
anteriorly.
• Unusual shape of the femoral head,
chef’s hat appearence

59. LIMBS
• Second digit is elongated due to
accessory epiphyses for second
metacarpal
• Distal phalanges small and pointed

60. FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
• Progressive ossification of striated muscles, tendons, ligaments,
fascia, and aponeuroses.
• Mc presenting symptom is torticollis, with painful, hot, edematous
masses in the sternocleidomastoid muscles; in 1st yr of life
• Early soft tissue mass- edema and exudate; later calcium deposits-
lamellar and woven bone formation
• Severe restriction of movt and disability

61. • Microdactly of great toe and thumb
• Synostosis of phalanges
• Short 1st and 5th metacarpals
• Hallus valgus

62. • Broad femoral neck
• Diffuse ossification around hip joint

63. • Ectopic ossification
• Initially scute inflammation-soft tissue masses.
• Eventually calcium deposition occurs, linear and spheroid deposit of
bone are seen along tendon, ligaments, fascia and muscles

64. HOLT ORAM SYNDROME/ CARDIOMELIC SYNDROME
• CVS changes- VSD, anomalies of great vessels, AV conduction
abnormalities
Limb defects-
• Hypoplasia/ absence of radial head
• Complete absence of radius- Radial Ray Deficiency
• Radio-ulnar synostosis, Humero-ulnar synostosis
• Anomalies of the thumbs are the most common skeletal finding- An
extra phalanx in the first digit is frequent (triphalangeal thumb)
• Extra carpals and carpal fusion also commonly seen

66. MARFANS SYNDROME
• Autosomal dominant entity consisting of long, slender tubular bones,
ocular abnormalities, and aortic aneurysm
• Elongation of the tubular bones (the trunk is spared) is most marked in the
distal portion of the extremities, especially the phalanges, metacarpals,
and metatarsals.
• Associated findings include hip dislocation, genu recurvatum, patellar
dislocation, and pes planus, persistent bilateral perilunate disclocation
• Skull- Dolicocephaly(increased AP dia)
• Face- elongated. High arched palate; Poor dentition
• Ectopia lentis(mc ocular anomaly)

67. • Arachnodactlyly
• Elongated osteopenic ribs; Pectus excavatum
• Spine - tall vertebrae ; severe scoliosis or kyphoscoliosis. The spinal
canal is widened in > 50% of cases, especially in the lumbosacral region.
There is posterior scalloping of the vertebral bodies and thinning of the
pedicles and lamina secondary to dural ectasia.

68. NAIL PATELLA SYNDROME
• Dysplastic fingernails, small or absent patellae, bony deformities of
the pelvis and elbows, iliac horns, numerous soft tissue
abnormalities, and renal dysplasia
• Posterior iliac horns- characteristic
finding
• An isolated finding of iliac horns
without nail and patellar findings,
is referred to as Fong’s disease

69. TUBEROUS SCLEROSIS
• The classic clinical triad consists of mental retardation, epileptic
seizures, and skin lesions
• Mc skin lesion is Adenoma Sebaceum(hamartoma)
-Others- Café-au-leit macules, Shagreen patches, gingival and peri-
ungual fibroma, skin tags
• Intracranial abnormality- Intracranial calcification in basal ganglia and
periventricular region
-Subependymal and cortical tubers

71. • Visceral abnormalities- myolipomas, angiomyomas, angiofibromas,
adenomas, or rhabdomyomas
Skeletal lesions- Irregular subperiosteal new bone
formation, ; well defined cysts in phalanges