DAVID SUTTON PICTURES THE CONGENITAL SKELETAL ANOMALIES: SKELETAL DYSPLASIAS: CHROMOSOMAL DISORDERS ONLY FOR STUDY PURPOSE

1. DAVID SUTTON
35

2. DAVID SUTTON PICTURES
DR. Muhammad Bin Zulfiqar
PGR-FCPS III SIMS/SHL

3. Fig. 35.1 The scapula is elevated and a large omovertebral bone is
shown.

4. • Fig. 35.2 (A,B) Madelung's deformity-defective
development of the inner third of the radial epiphysis,
increase in interosseous space, backward projection of
the ulna and anterior displacement of the hand.

5. • F1g.35.3 Trauma to
the distal radius has
resulted in partial
fusion of the
epiphyseal plate and
partial growth arrest.
Avulsion of the ulnar
styloid I occurred at
the same time.

6. • FIg, 35.4 Chondroectodermal dysplasia (Ellis-van
Creveld syndrome). Polysyndactyly is demonstrated. In
addition, the phalanges are abnormal in morphology.

7. • Fig. 35.5 (A) Coronal scan of a 3-month-old baby's hip. The ilium (II) is
parallel to the transducer. The femoral head (F) is round and of speckled low
echogenicity with a central bright echogenic ossific centre. The bony
acetabulum (Ac), cartilaginous labrum (Lb), triradiate cartilage (tr) and ischium
(Is) should be seen if in the correct plane (gluteal muscle = GI). (B) Coronal
scan of developmental dysplasia of the hip. Note the shallow acetabulum (Ac)
and displacement of the femoral head (F) (double-headed arrow). (C) Coronal
scan of normal hip showing Graf angles (a = bony acetabular roof angle and/3
= the cartilaginous acetabular roof angle)

8. • Fig. 35.6 A small
defect with
marginal sclerosis is
seen above the
acetabulum (arrow)
in a neonate who
later was shown to
have a congenitally
dislocated femoral
head. * Marks the
site of the projected
femoral head

9. • Fig. 35.7 (A) Bilateral congenital dislocation of the hip. The
initial radiograph demonstrates lateral subluxation of both
femoral heads with dysplastic acetabula. The ossifying
nucleus can be seen developing at the midpoint of the
growth plate. Its eventual position could be predicted from
the original plain film. (B) End-stage undiagnosed bilateral
CDH. The femoral heads have molded in their new situation
and articulate with the iliac blades.

11. • Fig. 35.9 (A) Arthtrogram of the hip showing
'rose thorn' appearance of the normal limbus
(arrow). The 'rose thorn' is larger than usual. (B)
Diagrammatic representation of the normal hip
arthrograrn

12. • Fig. 35.10 Hip arthtrogram in a child. The acetabulum is dysplastic.
The ossific nucleus is seen within the largely cartilaginous head.
(A) In abduction the femoral head is congruous with the acetabular
cartilage. (B) In the neutral position the femoral head is
incongruous, with pooling of contrast agent medially.

13. • Fig. 35.11 Proximal
focal femoral
deficiency. Only a
hypoplastic portion of
the distal right femur is
apparent.

14. • Fig. 35.12 Congenital coxa vara-extreme coxa
vara with some slip of the epiphysis. A
triangular fragment of bone is well shown.

15. • Fig. 35.13
Neurofibromatosi
s. Pseudarthroses
are seen
bilaterally. The
fibulae are thin
and bowed. Bony
struts have been
inserted at
surgery.

16. • Fig. 35.14 Avascular necrosis of the os trigonum.
(A) This bone is sclerotic and would be grossly
abnormal on a bone scan. (B) MR scan. (C) CT
scan.

17. • Fig. 35.15 (A) Sesamoids at the metatarsal heads. Apart from the
usual medial and lateral sesamoids at the great toe metatarsal
head, sesamoids are also seen at the second, third, fourth and fifth
metatarsal heads. (B) To show the pesercentages of foot sesamoid
incidence in Bizarre's (1921) series.

18. Fig. 35.16 Congenital talipes equinovarus (clubfoot). (A)
On the AP view the heel is in varus and the forefoot
also. (B) There is extreme cavus on the lateral view. The
foot bears weight laterally on the fifth metatarsal. (C)
The oblique view of the foot shows the calcaneum in
equinus.

19. • Fig. 35.17 Congenital vertical
talus. (A) The anterior view shows
calcaneus valgus and metatarsus
valgus. The long axis of the talus is
much medial to the first
metatarsal. (B) On the lateral view
equinus of the calcaneus and
vertical orientation of the talus are
shown. The navicular has not yet
ossified. (C) In this adult patient
there is a rocker-bottom foot with
vertical orientation of the talus.
The navicular articulates with the
anterior aspect of the talar dome
and the neck. There is a flat
longitudinal arch.

20. • Fig. 35.19 (A) Tarsal coalition resulting in a flat foot. The subtalar joints
are no longer clearly visualised. (B) CT scan of tarsal coalition showing
right-sided fusion of the middle facet of the subtalar joint. (C) Axial view in
a different patient showing unilateral coalition of the left middle
facet(arrow).

21. Fig. 35.19: (D) A bone scan shows symmetrically increased
uptake away from bilateral fusions in another case-a stress
phenomenon. (E) MR scan

22. • Fig. 35.20 Nail-patella
syndrome. (A) Iliac horns are
seen (arrows). (B) A small
laterally placed patella is
shown. (C) Hypoplasia of the
capitellum is shown.

23. • Fig. 35.21 Butterfly vertebra. (A) The upper and
lower surfaces of affected vertebra are V-shaped,
and contiguous vertebrae are moulded into the
deficient centre. (B) MR image showing the same
deformity.

25. • Fig. 35.22 Hemi vertebra. (A) On the plain film there is a right-sided
hemivertebra causing a significant osteogenic sclerosis concave to the
left. (B) In another patient a thoracic hemivertebra is shown on the left,
with an osteogenic scoliosis resulting. Deformity of the adjacent
vertebral bodies is demonstrated. (C) In the same patient, the sagittal
T2 -weighted MR sequence shows the hemivertebra to be situated
posteriorly and associated with an acute kyphos.

26. • Fig. 35.24 Os odontoideum. The odontoid peg is
clearly separate from the body of C2 but retains
a normal relationship with the arch of the atlas.
These lesions usually follow trauma in childhood

27. • Fig. 35.25 Cervical rib. The cervical rib originates from a
transverse process which points downwards. Thoracic ribs
originate from upward-pointing transverse processes. (A)
On the plain radiograph the well-corticated and ossified
cervical ribs are shown originating from the C7 transverse
processes. (B) At MR imaging the lesions are less well
defined (arrows), but any associated fibrous attachments
are seen with this imaging modality.

28. • Fig. 35.26 Localisation of the L5 vertebral body at
axial imaging by the presence of the iliolumbar
ligament (arrow). This leads from the transverse

29. • Fig. 35.27 Spina bifida. Central laminar defects
are demonstrated throughout the lumbar spine.
There is quite marked separation of the pedides,
which are hypoplastic.

30. 35.28 Adolescent idiopathic scoliosis. (A) The initial radiograph
shows a moderate thoracic scoliosis with compensation inferiorly.
(B) Four years later the curves have increased in the coronal plane,
as well as the degree of spinal rotation. This is especially apparent
in the lumbar region.

31. • Fig. 35.29 Scoliosis i n neurofibromatosis. (A)
There is a very acute curvei n the lumbar spine
with marked rotation. (B) Dural ectasia is seen on
the lateral view.

32. • Fig. 35.30 Measurement
of the curve by the
method of Cobb.
Perpendiculars are drawn
to lines at the uppermost
and lowest end-plates of
the curve. The angle at
which the perpendiculars
meet is the angle of the
curve.

33. Cleidocranial Dysplasia
• Fig. 35.31 Cleidocranial dysplasia. (A)
Clavicular defects are demonstrated,
especially on the right side.

34. • Fig. 35.31 Cleidocranial dysplasia.(B) Note
delayed mineralization in the frontoparietal
region and wormian bones posteriorly. Facial
bones are small but the mandible is normal.
Delayed dentition is also seen.

35. • Fig. 35.31 Cleidocranial dysplasia. (C) Failure
of ossification of the symphysis pubis is
demonstrated.

36. • Fig. 35.32 Pyknodysostosis.(A) The skull shows failure of sutural
fusion and sclerosis of the base. The angle of the mandible i s
obtuse and the maxilla hypoplastic (see Ch. xx). (B) The lumbar
vertebral bodies show a spool shape with quite prominent anterior
defects. Overall there is sclerosis

37. • Fig. 35.33 Osteogenesis imperfecta. (A) There is
osteopenia. A fracture has resulted in bowing and a
periostitis. (B) The long bones are gracile and bowed.
Marked osteopenia is also present.

38. • Fig. 35.34 Osteogenesis imperfecta. Persistence
of wormian bones and basilar invagination are
shown.

39. • Fig. 35.35 Osteogenesis
imperfecta. The child is
stillborn. Multiple
fractures are
demonstrated in the
short and broad long
bones, which are cystic
in appearance.
Numerous rib fractures
are seen.

40. • Fig. 35.36 Osteogenesis
imperfecta. The skeleton i s
immature. The femur is
expanded and bowed at the site
of previous fractures. The
midshaft has a cystic, or soap-
bubble, appearance.

41. • Fig. 35.37 Idiopathic
juvenile
osteoporosis. Gross
vertebral
compression affects
mainly the central
portions of the
vertebral bodies.

42. • Fig, 35.38
Metaphyseal
fractures around
the knee in
idiopathic juvenile
osteoporosis
distinguish this
condition from
osteogenesis
imperfecta.

43. • Fig. 35.39 Fibrogenesis imperfecta. Marked
coarsening of trabeculation occurs throughout
the skeleton but the bones retain their
contour.

44. • Fig. 35.40
Osteopetrosis. Bone
density is uniformly
increased apart
from a small curved
zone of normal bone
at the iliac crest
metaphysis. The
spleen is the site of
extramedullary
haemopoiesis.

45. • Fig. 35.41
Osteopetrosis-fine
vertical lucencies are
seen extending to the
metaphyses, together
with a 'bone within a
bone' appearance at the
tibial and fibular
diaphysis.

46. • Fig. 35.42 Osteopetrosis-spontaneous
fracture of upper end of right femur.

47. • Fig. 35.43 Osteopetrosis-note inset of an
earlier vertebra within each vertebral body.

48. • Fig. 35.44 Melorheostosis. (A) The plain film shows eccentric and irregular sclerosis along the
medial aspect of the distal femur, crossing the joint into the adjacent tibia. There is new bone on
the outer aspect of the cortex and also in the soft tissues. (B) On the radioisotope bone scan
increase in uptake is demonstrated in the areas of bone sclerosis. (C) The coronal T,-weighted MR
sequence shows sclerotic bone, as expected, as areas of low signal lying within the marrow, on the
periosteum and in the soft tissues.

49. Fig. 35.45 Osteopoikylosis.

50. • Fig. 35.46 Vertical striation
extends to the articular surfaces
in osteopathia striata.

51. • Fig. 35.47 Four
examples of quiescent
fibrous dysplasia in the
proximal femur. The
lesions are well defined,
often with a very thick
'rind' around them, and
show various degrees of
central mineralisation.
The site is typical for
fibrous dysplasia

52. • Fig. 35.48 Fibrous
dysplasia. A
multilocular, partly
cystic, expansile lesion
• of the midshaft femur
is surrounded by a
thick rim of reactive
sclerosis.

53. • Fig. 35.49 Fibrous
dysplasia-large
expanding lesion in
superior pubic
ramus and sclerosis
in upper end of the
femur.

54. • Fig. 35.50 Fibrous dysplasia. (A) The plain film in this
much more severe polycystic case shows marked
enlargement and deformity of the pelvis and
proximal femur. There is marked bony expansion with
extensive cyst formation. The shepherd's crook
deformity has been stabilized. (B) The CT scan shows
the mixed pattern of tissues seen in fibrous dysplasia,
ranging from cystic through ground-glass to heavily
mineralised tissue.

55. • Fig. 35.51 Fibrous dysplasia. (A) There is thickening with sclerosis of the frontal
bone, the floor of the anterior cranial fossa and the base of the skull extending
back to the sphenoid sinus, which is replaced by dense amorphous bone. (B) The
CT scan shows expanded and abnormally mineralised bone occupying mainly the
left side of the skull base. Considerable facial deformity is present.

56. • Fig. 35.52 Polyostotic fibrous dysplasia. (A) The plain film shows extensive involvement of the
skull base which is sclerotic and thickened, but a rather more patchy and diffuse involvement of
the vault, which shows areas of normal bone interspersed with areas of thickened bone. (B) On
the sagittal T,-weighted MR sequence the appearances exactly mirror the changes seen on the
plain film. The skull base is thickened and shows extensive low signal with loss of marrow. Marrow
is only to be seen in part of the frontal bone. The region of the frontal sinus, which is obliterated,
shows a mixture of low and intermediate signal. The low signal indicates mineralisation, the
intermediate fibrous tissue, and the subcutaneous fat shows uniform bright signal.

57. • Fig. 35.52 Polyostotic fibrous dysplasia. (C) An axial CT scan through the vault shows a
typical mixed pattern of fibrous tissue which is partially mineralised. Cysts are shown.
(D) The same skull at MR imaging. On the T,-weighted sequence the bright outer band
represents fat beneath the skin; the thickened skull vault is seen as a mainly low-
signal area anteriorly.

58. • Fig. 35.53 Fibrous dysplasia.
(A) In this patient the left
antrum shows increased
density and the left maxillary
alveolus is enlarged by a
sclerotic area of fibrous
dysplasia. In the left side of the
mandible, the expansile lesion
is more radiolucent. (B) On the
radioisotope bone scan, the
anterior and lateral scans show
a gross increase in uptake in the
left maxillary antral region.
Expansion is also confirmed.
The abnormality extends to the
base of the skull at the anterior
cranial fossa. The lytic
mandibular lesion seen on the
plain radiograph is also seen as
an area of increased uptake
but, as expected, is not as
prominent.

59. • Fig. 35.54 Fibrous
dysplasia, right femur:
MR scans. (A) There is
a localized well-
defined expansile
lesion with an intact
cortex showing areas
of mixed signal on the
T,-weighted coronal
image. (B) The axial
fat-suppression study
confirms the
expansion of the bone
and shows fluid within
well-loculated cysts in
the lesion.

60. • Fig. 35.55 A
pathological fracture
with irregular bone
destruction due to
malignant
degeneration is
superimposed upon
fibrous dysplasia.

61. • Fig. 35.56 (A,B) Chondrodystrophia calcificans congenita. There is irregularity of
vertebral bodies and of the neural arches and spinous processes in association
with soft-tissue stippled calcification. These changes are also seen at the joints.
The long bones are markedly shortened. The humeral metaphysesare irregular.

62. Fig. 35.57 Dysplasia epiphysealis multiplex. Both femoral heads
are hypoplastic and fragmented. The femoral necks are
irregular and broad. Similar changes are seen at the greater
trochanteric apophyses. Dysplastic acetabula are
demonstrated.

63. Fig. 35.58 Dysplasia
epiphysealis
multiplex, showing
thinning of the outer
part of the lower
tibial epiphysis; this
is seen about half of
the cases.

64. Fig. 35.59 Knee of same
patient as in Fig. 35.58.
Marked fragmentation
of the patella.

65. • Fig. 35.60 Dysplasia
epiphysealis multiplex-
angular condyles and
flat intercondylar notch.
This is a characteristic
appearance though not
always.

66. • Fig. 35.61 Dysplasia epiphysealis multiplex. At CT
scanning the flattening of the femoral heads is
confirmed in association with marked irregularity and
fragmentation. There is substantial anteversion and
uncovering on the left. Muscle atrophy is evident.

67. • Fig. 35.62 Dysplasia
epiphysealis
hemimelica.
Marked
overgrowth of the
femoral head. It is
subluxed laterally.
The superior
portion resembles a
partially calcified
cartilaginous tumor.

68. • Fig. 35.63 (A) At the knee there is overgrowth of the epiphyses with
premature fusion centrally resulting in a chevron deformity. There is a
large osteochondromatous growth on top of the proximal tibial epiphysis
laterally and also affecting the lateral femoral condyle. (B) Premature
fusion is demonstrated at the distal tibial growth plate laterally and
osteochondromatous overgrowth is demonstrated at the epiphysis and
also at the adjacent talus. The distal fibular epiphysis is abnormal in shape
and quitemarkedly overgrown.

69. • Fig. 35.64 Metaphyseal chondrodysplasia, type
Schmid; mild changes only in upper femoral
metaphyses. Other metaphyses were similarly
affected

70. • Fig. 35.65 Metaphyseal chondrodysplasia,
type Jansen.

71. • Fig. 35.66 Growing lesions in
multiple exostoses
(diaphyseal aclasis). (A) Initial
radiograph taken at 3 months
of age shows small
metaphyseal spurs. (B) Left
humerus at 3.5 years of age.

72. • Fig. 35.66 Growing lesions
in multiple exostoses
(diaphyseal aclasis). Left
knee at 10 years of the
same child.

73. • Fig. 35.67 Diaphyseal
aclasistypical deformity of
bones of the
• forearm.

74. • Fig. 35.68 Diaphyseal aclasis. Exostoses are
seen associated with the spine in this patient
who developed paraplegia.

75. • Fig. 35.69 Malignant degeneration of cartilage-capped exostosis. (A) The initial
radiograph shows the exostosis with a large soft-tissue mass lying peripheral to it;
the margin of the exostosis is irregular. (B) The sagittal T,-weighted MR sequence
demonstrates a large irregular soft-tissue mass containing .only a little mineralised
bone. There is invasion of the underlying marrow by the tumour.

76. • Fig. 35.70
Achondroplasia.
Square iliac blades
with horizontal
acetabular roofs.
Note also the narrow
interpedicular
distances in the
lumbrosacral region
and the defects at the
distal femoral
metaphyses into
which the epiphyses
insert.

77. • Fig. 35.71
Achondroplasia. Canal
stenosis is
demonstrated at
radiculography.
Posterior scalloping of
vertebral bodies is
shown between areas
of distal indentation
upon the opacified
theca.

78. • Fig. 35.72 Achondroplasia. (A) This sagittal T1-weighted MR sequence
shows vertebral scalloping as a prominent feature in the lumbar spine. (B)
The axial image shows short, broad pedicles and severe associated canal
stenosis.

79. • Fig. 35.73 Trident
hand in
achondroplasia.

80. • Fig. 35.74 Overgrowth
of the distal fibula in
hypochondroplasia.

81. • Fig. 35.75
Hypochondroplasia.
A narrowed
interpedicular
distance at L5 in the
same patient as Fig.
35.74.

82. 35.76 Pseudoachondroplasia. (A) Tongue-like projections of the vertebral bodies with
superior and inferior defects. (B) Long bones-irregular epiphyses and metaphyses
with tilt deformities.

83. 35.76 Pseudoachondroplasia. (C) Hands-the radius and ulna are flared
at the metaphyses, the carpal bone epiphyses delayed and irregular,
and the metacarpals short. The phalanges are stubby and the
epiphyses angular and irregular.

84. • Fig. 35.77
Thanatophoric
dwarfism. A cloverleaf
skull is present. The
scapulae are
hypoplastic and the
clavicles high.
Platyspondyly is
shown, resulting in H-
shaped vertebral
bodies. The bones are
short and bowed.

85. • Fig. 35.78
Asphyxiating
thoracic
dystrophy-short
horizontal ribs
with high clavicles
but a normal spine.
The scapulae are
hypoplastic.

86. • Fig. 35.79
Chondroectodermal
dysplasia. Hypoplasia
of the lateral portion of
the upper tibial
epiphysis is present and
the metaphysis is dome
shaped. Incidental
fractures are
demonstrated.

87. • Fig. 35.80 Chondroectodermal dysplasia.
Polysyndactyly is present together with
anomalies of carpal segmentation.

88. • Fig. 35.81
Dyschondrosteosis.
(A) There is
separation of the
hypoplastic distal
radius and ulna with
proximal herniation
of the carpus. (B)
The lateral view
shows the posterior
situation of the ulna
and hypoplasia of
the proximal radius.

89. • Fig. 35.82 MPS I-H
(Hurler's syndrome).
Hypoplasia of L2 body
with a pronounced
inferior beak and a
resulting angular
kyphosis.

90. • Fig. 35.83 MPS I-H
(Hurler's syndrome).
Undertubulation is
associated with
demineralisation. The
metacarpals are pointed
proximally. The distal
radius and ulna are
angulated.

91. • Fig. 35.84 MPS IV (Morquio-
Brailsford syndrome). The lateral
view of the spine shows
osteopenia and platyspondyly
with anterior beaking. There is a
thoracolumbar kyphos. The hip
joints appear irregular, even on
the lateral view.

92. • Fig. 35.85 MPS IV. Simian pelvis, fragmented, maldeveloped
femoral capital epiphyses with associated metaphyseal irregularity.
Shallow acetabula with dislocation of both femoral heads shown
also-a feature sometimes seen in this condition.

93. • Fig. 35.86 Spondyloepiphyseal
dysplasia (X-linked recessive
form) showing characteristic
platyspondyly. Mounds of bone
are seen on the superior and
inferior parts of the posterior
parts of the vertebral bodies.
Gas is seen in the prematurely
degenerate discs.

94. • Fig. 35.87 Pelvis of patient in Fig. 35.86. Some
(but not gross) osteoarthritis is seen, with some
bilateral acetabular protrusion. The iliac wings
are characteristically small in this condition.

95. • Fig. 35.88 Hypophosphatasia
in an infant. The
appearances resemble a
very severe form of rickets,
changes especially affecting
the metaphyses, but
proceeding further into the
shaft of the long bone than is
normal with rickets. The
growth plates are widened
but the ossification centres
at the epiphyses are far
better defined than would be
usual in the rickets.

96. • Fig. 35.89 Marfan's
syndrome -
elongation of
metacarpals and
phalanges is
demonstrated

97. • Fig. 35.90
Homocystinuria.
Osteoporosis is
associated with
platyspondyly of the
thoracic spine.

98. • Fig. 35.91
Homocystinuria.
Overgrowth of
carpal epiphyses is
present.

99. • Fig. 35.92
Achondrogenesis. Gross
shortening of the long
bones is seen. The
metaphyses are
irregular and the
epiphyses around the
knee delayed in
appearance. Poor
mineralisation of the
caudal vertebral bodies,
sacrum and pubic bones
characterise Type II
achondrogenesis.

100. • Fig. 35.93 Fibrodysplasia ossificans
progressiva- soft-tissue ossification (arrows).

101. • Fig. 35.94
Fibrodysplasia
ossificans
progressiva.
Dysplastic changes
are demonstrated in
the great toe in 75%
of patients.

102. • Fig. 35.95 Fibrodysplasia ossificans progressiva. There is partial
fusion of the vertebral bodies and laminae and, in addition,
ossification of ligamenturn nuchae. The cervical canal is slightly
widened. Mandibular hypoplasia is also shown, perhaps because of
interference with the growth plate at the mandibular condyle.

103. • Fig. 35.97 Turner's
syndrome. The
medial tibia)
plateau is
depressed and the
adjacent femoral
condyle enlarged.

104. • Fig. 35.96 Turner's
syndrome-typical
shortening of
fourth
metacarpals.