This document discusses various skeletal dysplasias and their radiographic features. It begins by defining skeletal dysplasias as abnormalities in bone formation, affecting cartilage and bone growth. It then describes several specific conditions:
- Achondroplasia is discussed as the most common type of disproportionate dwarfism, caused by a failure of enchondral bone formation. Radiographic features include rhizomelia, cupped metaphyses, and champagne glass-shaped pelvis.
- Thanatophoric dysplasia is described as having telephone handle bowed long bones, cloverleaf skull, and H-shaped vertebrae.
- Osteogenesis imperfecta is characterized by thin
2. DYSPLASIA
• Greek words: "dys" (disordered) and
"plassein" (to form).
• Skeletal dysplasias (osteochondrodysplasias) refer to an
abnormality in bone formation.
• Heterogeneous group of more than 200 disorders
characterized by abnormality of cartilage and bone
growth, resulting in abnormal shape and size of the skeletal
and disproportion of long bones, spine & head.
9. ACHONDROPLASIA
• MOST COMMON TYPE OF DISPROPORTIONATE DWARFISM
• AUTOSOMAL DOMINANT DISORDER
• MAIN DEFECT : FAILURE OF ENCHONDRAL BONE FORMATION -
GROWTH AND DEVELOPMENT OF CARTILAGE ARE MAINLY AFFECTED
10. • LONG BONE & FINGERS:
1.RHIZOMELIA
2.BONES ARE SHORT WIDENED WITH PROMINENT MUSCLE INSERTION
3.BONES END ARE OFTEN SPLAYED WITH METAPHYSEAL CUPPING
4.GP : ASSUME V SHAPED CONFIGURATION AND INSERT INTO THE V SHAPED DEFECT OF
METAPHYSIS ( CHEVRON SIGN)
5.JOINT SPACE WIDENED DUE TO PROXIMITY OF EPIPHYSIS AND DIAPHYSIS
6.LONG FIBULA : FIBULAR HEAD IS AT THE SAME LEVEL OF TIBIAL PLATEAU
7.METACARPAL METATARSAL AND SOMETIMES PROXIMAL PHALANGES ARE SHORT AND ARE OF
SIMILAR LENGTH
8.TRIDENT HAND
11.
12. A.Humerus.
shortening of the humerus. This shortening is most
apparent in the proximal portions of the limbs.
the average height is 50 inches.
Lower Limb. Observe the splayed and cupped
metaphysis as well as the shortening of the leg
13. • PELVIS :
1.ILIAC BLADE : SMALL AND SQUARE SHAPED (TOMB STONE)
2.ACETABULAR ROOF : HORIZONTAL
3.SHAPE OF INNER CONTOUR OF PELVIS : CHAMPAGNE GLASS PELVIS
14. SKULL AND SPINE
• LARGE SKULL BUT SKULL BASE IS SMALL
• Small Sella
• BASILAR IMPRESSION SEEN
• FORAMEN MAGNUM IS NARROWED & funnel shaped.
• PROMINENT LATERAL 3RD & 4TH VENTRICLES
• OBLITERATION OF CSF SPACES AROUND CMJ
15. • NARROWING OF INTER PEDICULAR DISTANCE (HALLMARK)
• SHORT PEDICLE
• SCALLOPING OF POSTERIOR ASPECT OF VERTEBRAL BODY
• WIDENING OF IV DISC
• SPINAL CANAL STENOSIS
• THORACOLUMBAR KYPHOSIS WITH BULLET SHAPED VERTEBRA
(D/D HURLER SYNDROME)
16.
17.
18.
19.
20. THANATOPHORIC DYSPLASIA
• 2ND most commonest skeletal dysplasia after OI TYPE 2
• TYPE 1: Marked underdevelopment skeleton, telephone handle
femur more pronounced
• TYPE 2: Cloverleaf skull (distinctive features ) ,mild limb shortening,
bowing is not a features
• Infants are still born or die shortly after birth
• Associated with polyhydramnios.
21. RADIOLOGIC FEATURES:
• Rhizomelic dwarfism
• the long bones are bowed with metaphyseal flaring
• Epiphysis of knee absent at birth
• Small hypo plastic iliac bone with trident acetabular roof
• Marked platyspondyly ,but posterior vertebral element remain
normal so on AP view vertebra assume H SHAPED
• Lateral temporal bulging of skull due to craniosynostosis (clover leaf
skull)
22.
23. • Telephone handle bowing of
long bones
• H shaped vertebra
• Clover leaf skull
24. Osteogenesis Imperfecta
• Heterogeneous group of non sex linked congenital disorder due to
qualitative and quantitative defect in synthesis of type 1 collagen
• four major clinical features are :
1. Osteoporosis with abnormal bone fragility
2. Blue sclera
3. Dentigerous imperfecta
4. Hearing impairment/ otosclerosis
Only 2 of these required to confirm the diagnosis
Other features : ligamentous laxity and hypermobility of joint ,short stature
,easy bruising
25. TYPE
• I: AD, MOST COMMON AND MILD TYPE
• II: peri natal and lethal AR
• III: progressive deforming
• IV & V : variable severity and uncommon
26. Radiological features
• Osteoporosis
• Cortical thinning and gracile long bones
• Recurrent diaphyseal fractures – excessive callus formation-pseudo
arthrosis formation
• Bowing of long bones, protrusio acetabula
• Skull: wide suture ,wormian bone, basilar invagination
• Vertebral compression fracture and kyphoscoliosis
• D/D : BBS & IJO
27. Thin and gracile bones are the most
common type found in osteogenesis
imperfecta
28.
29. • BICONCAVE LENS VERTEBRA.
Lumbar Spine. Note the severe
osteoporosis of the spine and
the biconcave appearance of the
vertebral bodies
35. • AD
• Faulty ossification of intramembranous and enchondral bone
• Height is reduced but dwarfism is not a feature.
• Large head small face and drooping shoulder
• Chest narrowed
• Gait disturbance and abnormal dentition.
36. Radiological features :
• Skull :
1. Widening of sutures – hot cross bun sign
2. Multiple wormian bone (not pathognomonic )
3. Persistence of metopic suture
4. Facial bones are small but mandible is of large size.
5. Hypo plastic paranasal sinuses.
6. Sphenoid bones are hypo plastic .
7. Nasal bones fails to fuse
8. Delayed & defective dentition
37. • Panoramic radiograph
showing over retained
deciduous teeth,
multiple impacted
permanent and
supernumery
teeth(appear in addition
to regular no. of teeth)
38.
39. THORAX
• Considerable variation in clavicular involvement
• 10% cases clavicle absent.
• A pseudo arthrosis may form if middle portion is absent
• Scapula: small winged and elevated
• Great hypermobility of shoulder
40. • Small pelvic bowl
• Midline defect in pubic symphysis
• Congenital coxa vara is seen
• 2nd & 5th middle phalanges are short
• 2nd & 5th metacarpal are long
• Distal phalanges are tapered and hypo plastic
45. CHONDRODYSPLASIA PUNCTA
(CHONDRODYSTROPHIC CALCIFICATION
CONGENITA)
• SYN :Stippled epiphysis .
• 3 types:
1. Rhizomelic type : AR , usually lethal type.
2. Non rhizomelic type :( conradi hunermann syndrome )
a) AD TYPE :Usually mild
b) XLD : lethal in boys
Clinically they are similar to achondroplastic dwarf
46.
47.
48.
49.
50. • The disorder becomes symptomatic when the asymmetrical
epiphyseal overgrowth interferes with normal joint range of
motion.
• It is found predominantly in the lower extremity and is usually
monomeric (one limb).
• The most commonly involved bones are the distal femur,
distal tibia, and talus.
• Focal overgrowth of one half of an epiphysis in the lower
extremity is the characteristic feature.
• The medial side of the epiphysis is affected twice as often as
the lateral side.
• The overgrowth, which has been described as an
osseocartilaginous tumour is a bony mass covered with
epiphyseal cartilage that is attached to the remainder of the
epiphysis.
51.
52.
53.
54. MULTIPLE EPIPHYSEAL DYSPLASIA
• Caused by abnormality of epiphyseal chondrocyte.
• Chid becomes symptomatic when it begins to walk.
• Most frequent complain is waddling gait.
• Most are of short stature .
• Bilateral symmetric involvement of lower limb ( hip ,knee ankle )
• Epiphysis : irregular surface
flattened and fragmented epiphysis
• Metaphysis : flared due to abnormal epiphysis
55.
56.
57. HOLT ORAM SYNDROME
• AD disorder
• It is one of the m.c causes of radial ray deformity
• Thumb :absent / tri phalanx thumb
• Cardiac defect : ASD (MOST COMMON )
VSD
58.
59. INFANTILE CORTICAL HYPEROSTOSIS
CAFFEY DISEASE
• Age : < 5 Y
• TRIAD : HYPERMOBILITY
SWELLING OF SOFT TISSUE
PALPABLE TENDER HARD SOFT TISSUE OVER BONE BUT LACK
WARMTH AND DISCOLOURATION
• FEVER (ALWAYS PRESENT)
• RAISED ESR AND ALK PO4
• PERIOSTEAL NEW BONE FORMATION WITHIN THE SOFT TISSUE
SWELLING ADJACENT TO CORTEX.
• LAMELLATE PERIOSTEAL REACTION SEEN
• Epiphysis spared in long bone
60.
61.
62.
63. METAPHYSEAL DYSPLASIA
• Rare AR disorder
• Flaring or splaying of ends of long bone due to failure of
metaphyseal modelling
• Bone density is normal
• Taller than normal
• Present with bulbous enlargement of lower extremity joints often
with genu valgum.
• Cortex is thin & predisposed to fracture.
• Lower limb > upper
• d/d : rickets
64.
65.
66.
67.
68.
69.
70. MELORHEOSTOSIS
• Greek derivation, meaning “limb, flow, and bone,” which
aptly describes the hyperostotic appearance that has
been likened to wax flowing down a lighted candle.
• Most common presenting symptom is pain.
• Joint swelling and limitation of motion are seen.
• Joint contractures and deformities may ensue.
• Premature epiphyseal closure, with resultant limb
shortening.
• Anomalous pigmentation, scleroderma-like atrophy of the
skin.
• This disorder is most frequently monomeric and usually
involves a lower limb.
71.
72.
73.
74.
75. OSTEOPETROSIS
albers Schonberg disease
• Deficiency of osteoclast function ,so bone become dense.
• Altered internal architecture of bone render them weak
• Therefore patients have dense sclerotic bone that fracture easily
• C/F :
severe anaemia
HPS
multiple cranial nerve entrapment
blindness
anaemia
76. RADIOLOGICAL FEATURES :
• LONG BONE :
Hallmark : increased density in medullary portion of long bone with
relative sparing of cortices
No trabeculation
Little or no differentiation b/w cortical and medullary region
Bone within a bone appearance
Erlenmeyer flask deformity
Fracture usually transverse and heal with normal callus
77.
78. BONE WITHIN A BONE
APPEARANCE
OSTEOPETROSIS.
A. Hands
. B. Wrists.
C. Foot.
79. SKULL AND SPINE :
• sclerosis and thickening of the skull base
• The sphenoid frontal sinuses and mastoids are under pneumatised
or not at all
• Neural foramina are encroached upon and blindness results
• Spondylolisthesis seen
• Ruger Jersey spine : due to inserted shadow of an earlier dense bone
• Sandwich vertebrae : dense band of sclerosis parallel to the end
plate
81. A. Pelvis. The single curved line paralleling each iliac crest, with a bone within a bone
appearance (arrows). A similar appearance is visualized in the femoral head and supra-
acetabular region bilaterally.
B. B. Pathologic Fracture of the Femur. Note the thick dense bands paralleling the iliac
crests and the pathologic sub capital fracture of the femur. Thickening of the pubic
rami is secondary to previous fractures (arrows).
82.
83.
84.
85.
86.
87. Skull
• Brachycephaly
• Dense calvarium, base & orbital
rim
• Widening of cranial sutures
• Wormian bones
• Hypoplasia of mandible with
obtuse angle results in a
receding jaw.
• Maxilla-Hypo plastic
88.
89. • The lumber vertebral bodies
shows a spool shape with a
prominent anterior and
posterior defects . Overall there
is sclerosis.
90.
91. OSTEOPATHIA STRIATA
• INCIDENTAL FINDING
• DENSE LINEAR STRIATION RUN PARALLEL TO LONG AXIS OF BONE IN
DIAPHYSIS AND METAPHYSIS REGION
• TYPICALLY SEEN IN AREAS OF RAPID GROWTH SUCH AS FEMUR
• IN ILIAC BONES THE STRIATION DEMONSTRATE A FAN SHAPED
APPEARANCE
92.
93. OVERLAP SYNDROME
• MORE THAN ONE SCLEROTIC BONE PATHOLOGY
• MOST COMMON COMBINATION :
MELORHEOSTOSIS
OSTEOPOIKILOSIS
OSTEOPATHIA STRIATA
94.
95. PROGRESSIVE DIAPHYSEAL DYSPLASIA
(camurati –Engelmann –syndrome)
• AD
• disorder of intramembranous ossification.
• Diaphysis is affected with characteristic sparing of epiphysis and
metaphysis (enchondral ossification)
• c/f: waddling gait
muscle pain
bone pain
96. R/F
• B/l symmetrical cortical thickening involving both endosteal and
periosteal surface of DIAPHYSIS OF long bone
• Narrowing of medullary cavity
• Metaphysis and epiphysis are not involved causing a sharp
demarcation with normal bone.
• Skull base (rare ): may cause cranial nerve palsy
• tibia is most commonly involved long bone.
97.
98. HEREDITARY MULTIPLE DIAPHYSEAL SCLEROSIS
(RIBBING DISEASE)
• Intramembranous ossification defect
• After puberty in middle aged individual
• Neuromuscular symptoms if any is milder than PDD
• cortical thickening involving both endosteal and periosteal surface of
DIAPHYSIS OF long bone
• either unilateral/ asymmetric asynchronous bilateral involvement
101. PLATYBASIA
congenital
• achondroplasia
• Down syndrome
• Chiari malformations
• craniocleidodysostosis
• craniofacial anomalies
• osteogenesis imperfecta
Acquired
• Paget disease
• osteomalacia
• rickets
• trauma
• fibrous dysplasia
• hypoparathyroidism
Platybasia is characterised by abnormal flattening of the skull base
102.
103. BASILAR IMPRESSION
Basilar invagination is defined as the upward displacement of vertebral elements
into the normal foramen magnum with normal bone, while basilar impression is a
similar displacement due to softening of bones at the base of skull
104.
105. • McRae line is a radiographic line drawn on a lateral skull radiograph or
midsagittal section of CT or MRI, joining the basion and opisthion.
• Chamberlain line is a line joining the back of hard palate with
the opisthion on a lateral view of the craniocervical junction.
• The McGregor line is a modification of the Chamberlain line It refers to
a line connecting posterior edge of the hard palate to the most caudal
point of the occipital curve.
• McRae line - tip of odontoid process normally projects below this line
• Chamberlain line - tip of odontoid process projects normally not more
than 3 mm above this line.
• McGregor line - tip of odontoid process projects normally not more
than 5 mm above this line.
106.
107.
108. • The digastric and basimastoid line has been used to evaluate basilar
invagination on frontal skull plain film and coronal reconstructed CT
image.
• The digastric line is drawn between right and left digastric grooves.
• The tip of the odontoid process and Atlanto-occipital joint normally
project 11 mm and 12 mm below this line respectively.
• Basilar invagination is present when atlanto-occipital joint projects at
or above this line.
• The bimastoid line is drawn between right and left tip of mastoids.
The tip of the odontoid process of C2 normally projects less than or
equal to 10 mm above this line.
• Basilar invagination is present when the tip of the odontoid process
projects above 10 mm.
114. • Hilgenreiner line is drawn horizontally through the superior aspect of both triradiate cartilages.
• Perkin line is drawn perpendicular to Hilgenreiner line, intersecting the lateral most aspect of the
acetabular roof
• The upper femoral epiphysis should be seen in the inferomedial quadrant (i.e. below Hilgenreiner line,
and medial to Perkin line)
• The acetabular angle is formed by the intersection between a line drawn tangential to the acetabular
roof and Hilgenreiner line, forming an acute angle. It should be approximately 30 degrees at birth and
progressively reduce with the maturation of the joint.
• Shenton line is drawn along the inferior border of the superior pubic ramus and should continue
laterally along the inferomedial aspect of the proximal femur as a smooth line. If there is a
superolateral migration of the proximal femur due to DDH then this line will be discontinuous.
115.
116. • The alpha angle is formed by the acetabular roof to the vertical cortex of the ilium. This is a
similar measurement as that of the acetabular angle (see below).
• The normal value is greater than or equal to 60º.
• The beta angle is formed by the vertical cortex of the ilium and the triangular labral fibrocartilage
(echogenic triangle).
• The normal value is less than 77º 6 but is only useful in assessing immature hips when combined with
the alpha angle
117.
118.
119.
120.
121.
122.
123.
124.
125.
126.
127.
128. Fibrous dysplasia
• Localised defect in osteoblastic maturation and differentiation with
replacement of normal bone with large fibrous stroma and island of
immature woven bone.
• Poly ostototic & monostotic
• Symmetry is unusual and the lesions are unilaterally distributed
• Age : 10 to 30
• The fibrous tissue undergoes varying degrees of ossification so that
some lesions show an increase in density
• Found incidentally or following pathological fracture
129. R/F:
• Medullary bone is replaced by well defined areas of fibrous tissue and
cyst containing blood and serous fluid with varying degree of
ossification ( ground glass appearance )
• Lesions tend to be meta diaphyseal.
• Lesions have smooth rounded margin of varying width ( often so wide
as to resemble rind of an orange )
• The bone is expanded and the cortex is scalloped and thinned but
intact
130. • The pelvis femur and ribs are most commonly affected
• In femur expansion and fracture gives an appearance of shepherd
crook
• Skull : frontal sphenoid parietal maxillary and mandible are involved
• Obliteration and expansion of facial sinuses make the face appear
mask like
• cherubism: mandible and maxilla alone (not true fibrous dysplasia)
131.
132.
133.
134. Chondroectodermal dysplasia
(ellis van crevled syndrome)
• AR
• Congenital cardiac defect : in 50 %
• Mesomelic dwarfism
• Metaphysis is dome shaped
• In proximal tibia the developing epiphysis is situated over the abnormal medial
tibial plateau and defective laterally : valgus deformity
• Postaxial polydactyly
• Carpal development delayed
• Fusion of carpals seen ( mainly capitate and hamate )
• Medial spur of acetabulum in the region of triradiate cartilage
• Rib cage resemble that seen in asphyxiating thoracic dystrophy
135.
136.
137. DYSCHONDROSTEOSIS
(LERI WEILL SYNDROME)
• AD
• Female with short stature
• Mesomelic dwarfism
• Hypoplasia of inner aspect of distal radius : the ulna sublaxated
dorsally (Madelung deformity)
• The carpal bone herniates proximally into the deficiency caused by
hypo plastic radius .
• Medial aspect of proximal and distal tibia is similarly defective.
• The fibula may be hypo plastic
146. Hurler vs. Morquio
• Hurlers - anterior inferior vertebral body
beaking
• Morquio - anterior middle vertebral body
beaking
– Mentation is normal
– Atlantoaxial instability
147.
148. Spondyloepiphyseal dysplasia
• Spondyloepiphyseal dysplasia is an inherited disorder of bone growth that results in
o short stature (dwarfism),
o skeletal abnormalities, and
o problems with vision and hearing.
• This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of
long bones in the arms and legs.
• Flattened vertebrae (platyspondyly).
• The most prominent features are found in the spine and pelvis.
149. A. AP Thoracolumbar Spine. Note the delayed ossification of the proximal humeral
epiphysis (arrow). B. Lateral Thoracolumbar Spine. Observe the mild bulbous
appearance of the anterior vertebral bodies. This will flatten into platyspondyly and
persist into adulthood. COMMENT: The platyspondyly, along with thin discs, results
in extreme shortening of the trunk.
o D/D-Morquio’s
syndrome.
o Unlike
spondyloepiphyse
al dysplasia, the
disc height is
normal in
Morquio’s
syndrome
patients and the
vertebral bodies
are flattened with
central beaking.
150. TARDA FORM. A. Lateral Lumbar Spine. Note the hyperostotic bone deposited
on the posterior two thirds of the vertebra, referred to as hump-shaped or
heaping-up vertebra. B. Lateral Lumbar Spine. Observe that this patient also
demonstrates a heaping-up configuration. COMMENT: Note the thinness of the
disc. The changes in spondyloepiphyseal dysplasia lead to back pain and
premature osteoarthritis.
151. Arachnodactyly(Marfans)
AUTOSOMAL DOMINANT.
Clinically, the long bones are lengthened and
muscle weakness, hypermobility.
The tubular bones are elongated and slender,
the distal bones being much more affected than
the proximal ones.
The hands and feet are especially elongated
and occasionally their bones have extra
epiphyses.
Kyphosis and scoliosis are frequent findings
152. Marfan's syndrome -elongation of
metacarpals and phalanges.
The diagnosis is usually
straightforward. Estimation of the
metacarpal index will aid the
diagnosis in doubtful cases. This
index is estimated by measuring
the lengths of the second, third,
fourth and fifth metacarpals and
dividing their breadths taken at the
exact midpoint. The resulting
figures, from each of the four
metacarpals, are added together
and divided by four. In normal
adult subjects the metacarpal
index varies from 5.4 to 7.9; in
arachnodactyly the varies from 8.4
to 10.4.
153. MARFAN’S SYNDROME: AORTIC DISSECTION AND RUPTURE. A. PA Chest. B.
Lateral Chest. Observe the gracile osteopenic appearance of the ribs, consistent
with Marfan’s syndrome. C. CT, Mid-Thorax. Observe the aortic dissection with
rupture (arrow).
Anteroposterior radiograph of the lower legs of a 12-year-old boy shows the short, broad tibiae characteristic of this disorder; the fibulae are relatively longer. The epiphyses about the knee joints have a V-shaped configuration and appear recessed into the trumpet-like metaphysis
Typical appearance of a hand in a 3-year-old girl. Note short metacarpals and short phalanges of the fingers .fingers are of same length.
Figure 8-5 ACHONDROPLASIA. Pelvis. Observe the characteristic champagne glass pelvis. The ilii are short andflat. Also observe that the acetabular roofs are horizontally oriented. Of incidental notation is retention of bariumin two colonic diverticula (arrows)
Lumbar Spine. Note the posterior scalloping of the vertebral bodies. The pediclesare short and thick and contribute to the development of lumbar spinal stenosis. COMMENT: These individuals areusually hyper lordotic.
Spinal Column. Note the increased disc height and bullet-nosed vertebrae.
, SURGICAL DECOMPRESSION. Lumbar Spine. Observe that this patient has haddecompression surgery from T11 through L1. Note the decreased interpedicular space throughout the lumbarspine. At L4, this distance measures 15 mm. The average normal measurement at L4 is 27 mm.
The acetabular roofs are flat, with downward spike like projections at the medial, lateral, and, sometimes, central aspects of the acetabular roofs, the so-called triradiate or trident acetabulum
d/d : BBS AND IJO :FRACTURE IS METAPHYSEAL : SARCOMATOUS CHANGE MAY OCCUR
Observe not only thesevere osteoporosis but also the extreme thinness of the cortices, both of which contribute to the skeletal fragilityof osteogenesis imperfecta. Note thatmultiple fractures have contributed to bowing deformities.
SHORT, THICK BONES. A. Femurs. B. Ribs. Note that multiplefractures contribute to the thick appearance of the femurs and ribs.
WORMIAN BONES. Skull. Note the numerous small Wormian bonesin the occipital region in this patient. COMMENT: Wormian bones are not pathognomonic of osteogenesisimperfecta and are found in several of the dysplasia
Osteogenesis imperfecta.The skeleton is s immature. The femur isexpanded and bowed at the site of previous fractures. The midshaft has a cystic, orsoap-bubble, appearance.
Skull. Note the numerous small Wormian bonesin the occipital region in this patient. COMMENT: Wormian bones are not pathognomonic of osteogenesisimperfecta and are found in several of the dysplasias.
Osteogenesis imperfecta.The skeleton is s immature. The femur isexpanded and bowed at the site of previous fractures. The midshaft has a cystic, orsoap-bubble, appearance. Intraosseous haemorrhage is believed to be the mechanism leading to the cysticappearance of bone in osteogenesis imperfecta.
MOST BUT NOT ALL PATIENT WITH THE DISEASE DIE IN INFANCY FROM RESPIRATORY DISTRESS
A. Wormian Bones, Lateral Occiput. Note the numerousWormian bones throughout the occipital region. These sutural bones are fairly common in cleidocranial dysplasiabut are not pathognomonic because they are found in other disorders as well. B. Sutural Widening. Note thatwidening of the sutures and persistence of the fetal sutures, as seen here, are common findings
CLAVICLE DEVELOPS FROM THREE OSSIFICATION CENTRE ( STERNAL ,MIDDLE AND ACROMIAL)
A. Note the agenesis of the middleand lateral portions of the clavicle, with only the medial portion present (arrows). B. Note the agenesis of themiddle ossification centre of the clavicle, with a pseudo arthrosis (arrow). C. All three ossification centres arepresent but are hypo plastic, with resultant pseud arthroses. COMMENT: In 10% of individuals with cleidocranialdysplasia the clavicles are completely absent
Note the midline diastasis of the pubic symphysis.
Observe that the distal phalanges are hypo plastic andtapered
PT ARE NOT OF SHORT STATURE LIKE PYKNODYSTOSIS
Stippled / punctate calcification at the ends of long bone. Kyphoscoliosis is also seen
LETHAL RECESSIVE CHONDRODYSPLASIA PUNCTATA: EPIPHYSEAL STIPPLING. Note that alongwith epiphyseal stippling, there is symmetric limb shortening and the metaphysis are flared. COMMENT: Theseindividuals usually die within the 1st year of life.
DOMINANT CHONDRODYSPLASIA PUNCTATA: CONRADI-HUNERMANN SYNDROME. A. Pelvisand Legs. Note that limb shortening is less commonly encountered, and stippling may be mild to severe. Theartefact is a clamp for the new-born's umbilicus (arrow). B. Autopsy Specimen: Femur. Note that in the dominantform the metaphysis and diaphysis are normal. COMMENT: For patients with the dominant form, life expectancy isnormal. This disorder may be associated with the use of Coumadin and warfarin during pregnancy.
CHONDRODYSPLASIA PUNCTATA: CONRADI-HUNERMANN SYNDROME. Spine and UpperExtremities. Observe the extensive vertebral stippling in this new-born. Irregular epiphyses are also noted in theshoulders and elbows.
Asymmetric epiphyseal overgrowth interferes with the joint motion
Distal Femur. Note the focal overgrowth of the medialfemoral condyle (arrow). COMMENT: These overgrowths become symptomatic when there is interference withnormal joint movement; Varus and valgus deformities may develop in affected joints
Note the less commonly encounteredinvolvement of the proximal ulna (arrows). (
AP Ankle. Observe the characteristic overgrowth of thedistal tibial epiphysis. The changes are confined to the medial side of the growth centre. COMMENT: The medialside of the epiphysis is affected twice as commonly as the lateral side in this condition.
. A. AP Knee. B. Lateral Knee. Note that theinvolvement of the distal femoral and proximal tibial epiphyses is confined to the medial half of these growthcentres. Deformity of the distal femoral metaphysis is secondary to the changes in the epiphysis. COMMENT: Thiscondition should not be confused with hereditary multiple exostosis, which involves the metaphysis and spares theepiphyses
Either there number is decreased or there arrangement and ossification is abnormal.
coxa Vera deformity due to SAFE is frequent complication
Spinal changes similar to schurrman disease is also noted
Bilateral Knees. Observe the symmetric flattening of thefemoral condyles and irregularity of the tibial plateaus. COMMENT: The irregular epiphyses often lead topremature and severe degenerative changes.
. A. AP Pelvis. Observe the bilateral and symmetricinvolvement of the proximal femoral epiphyses. There is secondary flaring of the metaphysis
Lateral Ankles.
The fragmentation and deformity of the distal tibiae and tarsals is symmetrical. C. Bilateral Hands. The distal
radial and ulnar epiphyses are deformed as are the metacarpal growth centres. COMMENT: The irregular epiphyses
lead to premature and severe degenerative arthritis, especially in the hips
Note agenesis of the radius (radial ray deficiency).This case is unusual because the thumbs have been spared. COMMENT: Anomalies of the thumbs are common inthis syndrome as are cardiac deformities
SYMMETRIC INVOLVEMENT IS SEEN.
Mandible clavicle and ribs are involved ,ulna is most commonly involved long bone.
MANDIBULAR INVOLVEMENT. Note the bilateralmandibular hyperostosis, with soft tissue swelling. COMMENT: The most commonly involved bones are themandible, clavicle, and ribs. Observe thesymmetric hyperostosis of the ribs and mandible.
ULNAR INVOLVEMENT. Note involvement of the ulna, withsparing of the radius and humerus. COMMENT: The ulna is the most frequently involved long bone in infantilecortical hyperostosis. EPIPHYSIS IS ALWAYS SPARED
LOWER EXTREMITIES. Note the symmetric involvement inthe lower extremities, with sparing of the epiphyses disease is most prominent in lateral arch of ribs and often associated with pleural effusion and eventration.,
These patients are sometimes misdiagnosed as vitamin d resistant rickets and given large dose of vitamin d. blood parameters are normal
Shoulders. Observe the flared metaphysis of the proximal humeri.
C. Wrist. Observe that the distal radialand ulnar metaphysis are flared.
Lower Extremities. Note the flared femoral metaphysis, resulting inan Erlenmeyer flask deformity. COMMENT: The lower extremity is more markedly affected than the upper in thisdysplasia.
NAIL : Hypoplasia /splitting of finger nails ( thumb and index – mc)
Bilateral posterior iliac horn : exostoses arising from posterior aspect of iliac bone (pathognomonic )
PATELLA : small / absent ; Tendency to recurrent dislocation
Observe the bilateral central posterior iliac horns,which are characteristic of this syndrome (arrows). COMMENT: An isolated finding of iliac horns, without nail andpatellar findings, is referred to as Fong’s disease.
It is also a/w linear scleroderma, osteopoikilosis, NF,TS,HEMANGIOMA.
Usually follows along one side of bone
Hyperostosis / bone deposition :
In children : endosteal
In adult : periosteal
Soft tissue calcification : joint ankyloses
Bone scintigraphy : increased uptake
A. Femur. Note the flowing, dense, cortical bonealong the medial aspect of the femur. B. Tibia. Observe the dense bone formation that appears to flow distallydown the tibia. C. Foot. The bone formation continues down the lower extremity into the foot, where it is foundalong the medial aspect of the tarsals and metatarsals. COMMENT: Melorheostosis is usually monomeric and isfound in the lower limbs.
MELORHEOSTOSIS: DISTRIBUTION ALONG ONE SIDE OF THE BONE. A. Humerus. B. Hand. Notethe extensive involvement along the lateral aspect of the hand and humerus. Note the t5hick undulating ridges of bone that look s like dripping candle wax
MELORHEOSTOSIS: ENDOSTEAL INVOLVEMENT. A. Femur. Note the endosteal involvement of thefemur encroaching on the medullary space. B. Tibia. Note that the medullary canal appears compromised owing toendosteal bone formation.
Distal Femur. Notethe uniformly dense appearance of the femur. Failure of remodelling produces flared metaphysis. ERLenmer flask deformity : due to constriction of diaphysis and flaring of metaphysis
OSTEOPETROSIS: SKULL INVOLVEMENT. A. Lateral Skull. Observe the basilar thickening andsclerosis. Also note involvement of the facial bones.
SANDWICH VERTEBRAE. A. Lateral Thoracic Spine. Note the dense bandsalong the superior and inferior endplates (sandwich vertebra). B. Lateral Lumbar Spine. Note the sandwichvertebrae.
CURVED LINE PARALLELING THE ILIAC CREST. A. Pelvis. Note the singlecurved line paralleling each iliac crest, with a bone within a bone appearance (arrows). A similar appearance isvisualized in the femoral head and supra-acetabular region bilaterally.
AD TRANSMISSION
MAINLY IN EPIPHYSEAL AND METAPHYSEAL REGION, LONG TUBULAR BONES CARPAL TARSAL ARE MAINLY INVOLVED ,SYMMETRIC LESION ,SIZE : 1 TO 10 MM
Associated with dermatofibrosis lenticularis
OSTEOPOIKILOSIS: METAPHYSEAL AND EPIPHYSEAL RADIOPACITIES. Knee and Pelvis. Notethe small roundish densities that are found surrounding the acetabula and proximal femora.
OSTEOPOIKILOSIS: INVOLVEMENT OF THE HANDS AND FEET. A. Wrist. Note the small roundishradiopacities resembling bone islands in the carpal and proximal metacarpal bones. B. Foot. Observe that all ofthe visualized bones of the foot show roundish radiopacities.
INCREASED BONE DENSITY WITH PRESERVATION OF MEDULLARY CANAL so anaemia not seen. Patient are of short stature which is not a feature of ccd
PRONE TO OM OF JAW
RECEDING JAW. Lateral Mandible. Note the hypoplasia of the mandible withan obtuse angle (arrowhead), producing a receding jaw. Abnormal dentition and spondylolysis of C2 (arrow) arealso noted.
Dense vertebral body with characteristic preservation of transverse process.
PYKNODYSOSTOSIS: TERMINAL TUFT HYPOPLASIA. Hand. Note the acroosteolysis, which is aconsistent finding in pyknodysostosis. There is also a generalized increase in bone density
Anteroposterior radiograph shows linear striations throughout the osseous pelvic structures. Note the fan-shaped appearance of the striations in the iliac crests due to the growth pattern of these bones.
(a) Osteopoikilosis. CT scan obtained at the level of the femoral heads shows bilateral small, round sclerotic foci consistent with osteopoikilosis. (b) Osteopathia striata. CT scan obtained at the level of the superior acetabula shows linear striations consistent with osteopathia striata.
Progressive diaphyseal dysplasia. Anteroposterior radiographs of the right (a) and left (b) forearms show bilateral and symmetric cortical thickening involving both the periosteal and endosteal surfaces. The medullary canals are narrowed, and there is characteristic sparing of the epiphyses. Anteroposterior radiographs of the right (a) and left (b) tibia and fibula demonstrate symmetric cortical thickening in the diaphysis of the long bones.
Anteroposterior radiograph of the tibia and fibula shows endosteal and periosteal thickening involving the diaphysis of the tibia.
T1-weighted (a) and short inversion time inversion-recovery (b)magnetic resonance images show characteristic unilateral cortical thickening involving the right femur, with no involvement of the left femur.
The three points are the nasion (frontal-nasal junction), the centre of the Sella turcica (midpoint between the clinoid processes), and the basion(anterior margin of the foramen magnum). Normal : 125 – 143, platybasia = > 143
Basilar kyphosis : < 125. normal measurement of Sella : anteroposterior 5 to 16 mm, vertical 4 to 12 mm
McRae line is a radiographic line drawn on a lateral skull radiograph or midsagittal section of CT or MRI, joining the basion and opisthion.
Chamberlain line is a line joining the back of hard palate with the opisthion on a lateral view of the craniocervical junction.
The McGregor line is a modification of the Chamberlain line It refers to a line connecting posterior edge of the hard palate to the most caudal point of the occipital curve.
McRae line - tip of odontoid process normally projects below this line
Chamberlain line - tip of odontoid process projects normally not more than 3 mm above this line.
McGregor line - tip of odontoid process projects normally not more than 5 mm above this line.
Two lines are drawn through and parallel to the midaxis of the femoral shaft and femoral neck. The angle subtended isthen measured. A value < 120° is designated as coxa vara and > 130° as coxa valga.
SPRENGEL’S DEFORMITY WITH OMOVERTEBRAL BONE. AP Cervicodorsal. Observe thecongenital failure of descent of the scapula (arrow), denoting a Sprengel’s deformity. There is a large, bony barprojecting from the lamina and spinous process of C7 to the vertebral border of the scapula, representing anomovertebral bone (arrowead). COMMENT: Of Sprengel’s deformity cases, 30-40% will have an associatedomovertebral bone.
normal alfa angle > 60 , beta angle <55
PUTTI’S TRIAD. AP Pelvis. Observe the three classic
findings of DDH: small hypo plastic femoral capital epiphysis (arrow), lateral and superior subluxation of the
femoral head, and a shallow acetabulum. The contralateral hip is normal in alignment and bony development.
SHENTON’S LINE. A and B. Normal. See text. C. Hip Dislocation. Note the interruption in thesmooth arc of Shenton’s line.
a/w mccune Albright syndrome and mazabrud syndrome
X-Ray shows bifid 3rd metacarpal with duplication of middle finger, short paired bones also seen
Hypoplasia of the lateralportion of the upper tibial epiphysis is present and the metaphysis is dome shaped. Incidental fractures are demonstrated.
Dyschondrosteosis. (A) There is separation of the hypo plasticdistal radius and ulna with proximal herniation of the carpus. (B) The lateralview shows the posterior situation of the ulna and hypoplasia of theproximal radius.
Normal skull, presenting a regularly shaped Sella (a). Skull of a 2-year-old patient affected by MPS VI (b); the abnormal J-shaped Sella (white arrow), is clearly recognisable. Skull of a 17-year-old patient affected by MPS VI (c), presenting a J-shaped Sella (white arrow) and some molars unerupted and angulated in both the jaws (white arrowheads)
This configuration may represent a normal anatomic variant and may be associated with neurofibromatosis or with a slow-growing tumour adjacent to the Sella, such as an optic chiasm glioma, so the “J-shaped” Sella turcica is characteristic, but not diagnostic of mucopolysaccharidosis.
Thoracolumbar Kyphosis. Note that the lower thoracic and upper lumbar vertebral bodies are small and arebeaked inferiorly, resulting in a thoracolumbar kyphosis.
Ribs. Note that the ribs are wide anteriorly (arrows), producing a paddle orspatulated appearanceObserve that the metacarpals and phalanges are short and wide. ALSO PROXIMAL TAPERING .Note also the osteoporosis.
MORQUIO’S SYNDROME: PLATYSPONDYLY WITH CENTRAL BEAKING AND PECTUS CARINATUM.A. Thoracic Spine. Note the flat vertebral bodies and central beaking. B. Pectus Carinatum. The sternum ishorizontally oriented and protuberant (arrows). C. Lateral Lumbar Spine. Note the characteristic central beakingin the lumbar spine. Also note that the disc heights are normal.
Lateral Cervical Tomogram. Observethat the upper cervical spine demonstrates odontoid agenesis. COMMENT: Atlantoaxial instability results fromhypoplasia or agenesis of the odontoid.
AP Pelvis. Note the poorly formed acetabula and femoral heads. Hipdislocations are frequently encountered.