This document provides an overview of the radiographic findings in various causes of short stature and skeletal dysplasias in children. It describes the typical radiographic features seen in conditions like achondroplasia, thanatophoric dysplasia, osteogenesis imperfecta, rhizomelic chondrodysplasia punctata, and others. For each condition, it outlines the findings on skull radiographs, spine radiographs, and long bone radiographs. Common features discussed include platyspondyly, irregular epiphyseal ossification, bowed long bones, and disproportionate shortening of limbs.
2. Height less than 2 or more standard
deviations below the mean for age and
gender within a population
3.
4. AP and lateral views of skull
AP and lateral views of entire spine
AP chest with rib
AP long bones
AP pelvis
AP hands
AP feet
Lateral ankle and
knee
5. Assessment of Epiphyseal Ossification
Delayed
Ossified epiphyses
-very small, irregular for age
Carpal and tarsal bones
Ring apophyses of the vertebral bodies-
Delayed and irregular epiphyseal
ossification
6. Assessment of Metaphyses and Physes
Fraying and irregularity of the physes
Abnormal flaring of the metaphyses indicate
disturbed endochondral ossification
Marked irregularity of the physes -
characteristic of the pure metaphyseal
dysplasias
7. Analysis of the Vertebral Bodies
Flattening of the vertebral bodies -
platyspondyly
The lumbar vertebral bodies -best level to
analyze
8.
9. Both torso and limbs are shortened
Causes:
-Chromosomal disorders
-Endocrine abnormality
-Nutritional disorders
-Chronic visceral disorders
10. • Average-size torso and shorter arms and
legs
• Shortened trunk with longer limbs
11. one part of a limb shows
relatively greater shortening
Proximal -Rhizomelia(Rhizo-root)
Middle - Mesomelia
Distal -Acromelia
14. most common type of disproportionate
dwarfism
Autosominal dominant
Mutation of gene in older fathers-95%
Stature-averages approximately 50 inches
15. Mutation in FGFR3 on chromosome 4
FGFR3
PROTEIN
Regulate
ossification
Gain of function-
incresed
regulation
ACHONDROPLASIA
NORMAL
16. Epiphyseal chondroblastic
growth and maturation defect
Periosteal and membranous
ossification are normal
Some enchondral ossification
centres are affected more than
other-base of skull and at the
ends of long bones
17. Short femur length measurement
often well below the 5th centile
Femur length (FL) to biparietal diameter (BPD)
Trident hand
2,3 and 4 fingers appearing separated and similar in length
Frontal bossing
Depressed nasal bridge
18.
19. AT BIRTH
-Trident hands with short,stubby fingers
-Depressed nasal bridge
-Prominent forehead
-Disproportionately large skull
-Prominent buttocks due to lordosis
-Short limbs with rhizomelic pattern
20.
21.
22. LONG BONES:
Tubular bones-short
-widened
-prominent muscle insertions
Rhizomelia
Fibula-long and bowed
23. Epiphysis:
Deformed by their insertion into V shaped
defects at metaphysis
CHEVRON SIGN:Epiphysis themselves
have V shaped distal ends with deep
intercondylar notches
24.
25. Widened joint spaces –proximity of
epiphyses and metaphyses
Retardation of ossification and a reduced
AP diameter -upper ends of the femora
appear relatively radiolucent
A defect at the site of the epiphysis of the
tibial tubercle -uncalcified cartilage
26. Small and its diameters reduced
The iliac blades - small and square-the
`tombstone' appearance
The acetabula are set posteriorly and the
acetabular roofs are horizontal
L5 is deeply set and excessive pelvic tilt
causes prominence of the buttocks and an
illusion of lordosis
27. The sacrosciatic notch is narrow, with a
prominent medially directed spur
The pelvic inlet resembles a champagne
glass
28.
29. The AP diameters of vertebral bodies -short
Height of vertebral bodies is insignificantly
reduced
In the thoracolumbar region a vertebral body
or two may appear wedged or bullet-nosed
Scalloping at the back of vertebrae
The spinal canal in the lumbar region tapers
The lateral view - small spinal canal
30.
31.
32. Mandatory to diagnosis
Large calvarium
Shortened base
Sella may be small
Foramen magnum is characteristically
small and funnel-shaped
33.
34. Ribs - short
- Anterior ends widened
Sternum -short and broad
Scapulae - losing their sharp angles
Glenoid fossae -small
35.
36. Tubular bones - short and wide
Trident hand- all the fingers are almost of
equal length and diverge from one
another in two pairs plus the thumb
37.
38.
39. Commonest fatal neonatal dysplasia
Radiological findings
Limbs :Rhizomelic dwarfism
Long bones are bowed
Metaphyses - irregular.
Epiphyses of the knee - absent at birth
Short, wide metacarpals and phalanges
40. Axial skeleton
Platyspondyly
Posterior vertebral elements-normal
On an anterior view- the vertebral bodies
resemble the letter H
Poor mineralisation of the ischium and pubis,
and small square iliac blades
The skull often shows lateral temporal bulging
due to craniostenosis- 'cloverleaf skull'
The ribs are short and flared anteriorly
41.
42.
43. AR
Respiratory distress
Spine-normal
Long bones-not curved and a little
shortened
Thorax-stenotic
Ribs-short and horizontal
Clavicles-highly placed
Polydactyly
46. Increased fragility of bones
and osteoporosis
Associated with dental abnormalities ,lax
joints and thin skin
Abnormality of Type I collagen, so that
the sclera, cornea, joints and skin are also
abnormal
50. chest
pectus excavatum or carinatum
pelvis
acetabular protrusio
coxa vara
51. general
severe osteoporosis
deformed, gracile (over-tubulated) bones
cortical thinning
hyperplastic callus formation
popcorn calcification: the metaphyses and epiphyses
exhibit numerous scalloped radiolucent areas with
sclerotic margins
zebra stripe sign: cyclic bisphosphonate treatment
produces sclerotic growth recovery lines in the long
bones
formation of pseudarthrosis at sites of healing
fractures
52.
53. Prenatal ultrasound
The prenatal sonographic features are often useful
in type II (perinatal) and type III forms
Decreased calvarial ossification
over visualization of fetal brain detail
the skull may deform/compress with transducer
pressure
may show evidence of fractures
long bones may appear shortened and/or
angulated as a result
there may be a sonographic gap along the length
of a long bone
rib - beaded appearance
polyhydramnios
54.
55. Fifty percent of patients -have congenital
cardiac defects which may be fatal.
AR
Radiographic features
Limbs :Paired long bones are short and the
metaphyses dome-shaped
: Dwarfism – mesomelic
56. At the proximal tibia the developing
epiphysis is situated over the abnormal
medial tibial plateau and is defective
laterally, so that valgus deformity results
Postaxial polysyndactyly - present
Carpal development - delayed
Carpal fusions are seen, especially
between capitate and hamate
57. Axial skeleton:
Skull and spine-normal
Rib cage resembles -asphyxiating thoracic
dystrophy
The acetabulum - medial spur in the
region of the triradiate cartilage
58.
59. Separated from classic achondroplasia,
though there are some features in
common
The skull is never affected, and the
patients are either normal or mildly
reduced in height
Inheritence- dominant
The abdomen and buttocks are
prominent and the legs are bowed in
childhood
60. Rhizomelia
Short, broad femoral neck
The distal fibula is overgrown compared
with the distal tibia
The iliac bones -smaller than normal but
not as markedly reduced as in
achondroplasia
61. The interpedicular distances narrow from
LI to L5
Pedicles are short- spinal stenosis
The lumbar lordosis is increased
62.
63. Short-limbed dwarfism
Recessive and dominant forms
Mild or marked severity
All patients-the skull is normal
No changes are seen in the first year of life
64. SPINE:
Vertebral bodies - flat and irregular with
central anterior 'tongues'
Near normal to platyspondyly and
scoliosis
65. LONG BONES:
The epiphyses - delayed in appearance
and markedly irregular.
Metaphyses -broad and spurred
After fusion, epiphyseal dysplasia of
varying degrees of severity is found
66. PELVIS:
Acetabulum - irregular
Premature osteoarthritis of the hips
Ilia - large ,pubes and ischia short
.
67. HANDS
Tubular bones - short and stubby
Delay in ossification of irregular
epiphyses and carpal bones
Metacarpals – shortened
Shortening of the radius and ulna may be
marked and both bones at the wrist may
be hypoplastic centrally, giving a 'V'
appearance
68.
69.
70.
71. Schmid- mild type, relatively common
-Metaphyses of long bones are
cupped and resemble rickets
Jansen's- Grossly irregular mineralisation
is seen in the metaphyses of
tubular bones
-A large gap is also seen between
the epiphyses and the
disordered metaphyses
72. Pena and Vaandrager type
-intermediate involvement of metaphyses
McKusick type
-sparse hair
-metaphyseal lesions
-dwarfism in Amish family
-cartilage-hair hypoplasia
76. Macrocephaly
J shaped sella
Thickened calvaria
oar-shaped ribs and hook-shaped vertebral
bodies
The ilia are widely flared
Femoral ossific nuclei fragmented
Coxa valga
The proximal ends of the metacarpals taper
Distal ends of the radius and especially the
ulna slope toward each other
77.
78.
79. Dwarfism,-shortness of the spine and
kyphosis
The tubular bones affected
The lesion may be familial.
Intelligence is unimpaired
Spinal changes are the dominant feature
80. The vertebrae – flat
The upper and lower surfaces of the
vertebral body are defective and a central
tongue of bone protrudes forward
One thoracolumbar vertebra may he smaller
than its fellows and displaced posteriorly -
kyphosis
Tubular bones are not markedly affected but
may be short and rather wide with
somewhat irregular metaphyses
81. The epiphyses - irregular and fragmented,
notably those of the femoral heads
The joint spaces are increased
Joint surfaces are shallow and irregular
The pelvis tends to be narrow, or shaped
like that of an ape
In the hands and feet the tubular bones
are short and stubby associated and some
irregularity of the carpal and tarsal bones
82.
83. Group of conditions characterised by
platyspondyly and dysplasia of other
bones
The degrees of spinal and tubular bone
involvement and the amount of dwarfism
vary between the different groups
84. X-linked variety-SED tarda
Mounds of dense bone are found on the
superior and inferior surfaces of the
posterior parts of the vertebral end plates
The iliac wings are characteristically
small
Premature hip degeneration
85. Dominant variety- SED congenita
Platyspondyly is maximal in the thoracic
spine
Lesions of tubular bones are severe and
early osteoarthritis may be expected
The hands are unaffected
Retinal detachment is common
89. Autosomal dominant
Primarily affects the epiphyses
Dwarfism of the short-limb type
Severe form (Fairbank) - small epiphyses
Mild type (Ribbing) - flat epiphyses
In order of frequency, the epiphyses
affected are those of the hips, shoulders,
ankles, knees, wrists and elbows
90. Epiphyses - appear late and are
fragmented and flattened
The deformities persist throughout life
and cause premature osteoarthritis
The femoral capital epiphyses -
symmetrical flattening and fragmentation
in the immature skeleton
91. Metaphyses may be widened to conform
to the deformed contiguous epiphyses
Secondary changes in contour in glenoid
and acetabular fossae
The carpal and tarsal bones may be
affected
Digits and toes –stubby
The skull is not affected
92. Characteristic features
Lower tibial epiphysis-lateral part is thinner than
the medial part; the trochlear part of the talus is
shaped to conform to the abnormal mortice
resulting in a tibiotalar slant
The double layered patella
The femoral and tibial condvles may be
hypoplastic and the intercondylar notch shallow
Flattening of the femoral and tibial condyles
makes the joint look widened
93. Spinal changes are seldom pronounced
and may be absent
The appearances in the spine, if present,
resemble osteochondritis
94.
95.
96. This disease exists in at least three types,
inherited differently:
1. Rhizomelic type (recessive) usually
lethal; the most common fatal type
2. Non-rhizomelic types
(Conradi-Hiinermann)
a. Dominant-common, usually mild
b. X-linked dominant- lethal in males
97. These have similar radiographic changes
Infancy-stippling or punctate calcification of
the tarsus and carpus, long bone epiphyses,
vertebral transverse processes and the pubic
bones
The resulting epiphyses - misshapen, and
deformities with asymmetrical limb
shortening
Scoliois
98. Severe form-vertebral bodies show a
vertical radiolucency on the lateral view
Ichthyosis may be seen in the rhizomelic
and X-linked forms
99.
100.
101. Common paediatric endocrine disorders
causing short stature
Congenital hypopituitarism
Hypothyroidism
Cushing's syndrome
Precocious puberty
102. MRI is the modality of choice in
evaluation of pituitary-hypothalamic axis
(PHA)
Tumors
Structural anomalies
CNS defects
103.
104. Congenital
Acquired
o Bone age is significantly delayed
o Epiphyseal dysgenesis (irregular, deformed
and stippled epiphysis) -longstanding
untreated hypothyroidism.
o Spine- platyspondyly and thoraco-lumbar
kyphosis
105.
106. Accelerated bone maturation leading to
reduced stature
The primary role of imaging is to detect
or exclude structural abnormalities
causing precocious puberty
When the metaphyses are merely flared and the physes are fairly normal, endochondral ossification may be slowed, but the actual process of endochondral ossification progresses normally. This occurs in achondroplasia
The metaphyses are flared, whereas the physis and the zone of provisional calcification (ZPC) are sharply defined (Fig. 132.2).
RHIZO-ROOT
Can cause obstructed labour
The characteristic clinical features of achondroplasia (A), exaggerated lumbar lordosis and short limbs (B), kyphosis (C), brachydactyly and trident hand con fi guration (D).
Short stubby fingers and toes
Appearance are smilar to those seen with local premature fusion after infection,trauma,or irradiation
V shaped defects at metaphysis
Severe symptoms from disc protrusions are liable to develop in later life- the spinal stenosis in the lumbosacral region is an important predis- posing factor
caudally so that the interpedicular distances decrease from LI to L5
Hydrocephalus may occur and has been attributed to this mechanical cause
PECULIAR SHAPE
, but carpal and tarsal bones are little affected
Radiological findings of achondroplasia. a-d) X-ray studies of a 5-year-old patient. a) Anterior view of the vertebral column shows narrowing of the interpediculate distance of the caudal spine; b) the typical hand presents brachydactyly with a trident configuration; c) the pelvis has and horizonal acetabula, and the femurs are short with proximal radiolucency; d) the short humerus also demonstrates rhizomelic dwarfism.
Trident hand-
. The infants are stillborn or die shortly after birth
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
Asphyxiating thoracic dystrophy-short horizontal ribs with high clavicles but a normal spine. The scapulae are hypoplastic.
There is osteopenia
Long bones are bowed AND SLENDER
The ectodermal dysplasia, with partial or total absence of teeth, and abnormal hair and nails, is not seen in asphyxiating thoracic dystrophy
Chondroectodermal dysplasia. Hypoplasia of the lateral portion of the upper tibial epiphysis is present and the metaphysis is dome- shaped. Incidental fractures are demonstrated.
Overgrowth of the distal fibula in hypochondroplasia
so that sonic patients are barely affected and some are grossly deformed.
distinguishing this condition from achondroplasia
In adult life,
again differing from achondro- plasia
In severe cases
Pseudoachondroplasia. (A) Tongue-like projections of the vertebral bodies with superior and inferior defects. (B) Long bones-irregular epiphyses and metaphyses with tilt deformities. (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
No biochemical changes are found. The patient may be wrongly diagnosed as suffering from vitamin D-resistant rickets and consequently and injudiciously given
large doses of vitamin D.
Such lesions may resemble Ollier's disease.
(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 osteochondro- matous overgrowth is demonstrated at the epiphysis and also at the adja- cent talus. The distal fibular epiphysis is abnormal in shape and quite markedly overgrown.
Metaphyseal chondrodysplasia, type Schmid; mild changes only in upper femoral meta- physes. Other metaphyses were similarly affected.
Metaphyseal chondrodysplasia, type Jansen-Grossly irregular mineralisation
MPS I-H (Hurler's syndrome). Undertubulation is associated with demineralisation. The metacarpals are pointed proximally. The distal radius and ulna are angulated.
MPS I-H (Hurler's syn- drome). Hypoplasia of L2 body with a pronounced inferior beak and a result- ing angular kyphosis
, and in childhood tend to have a characteristic form.
lower thoracic and upper lumbar region
, as growth proceeds, the defect becomes repaired
, for example of the acetabulum and glenoid,
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.
MPS IV. Simian pelvis, fragmented, maldeveloped femoral capital epiphyses with associated metaphyseal irregularity. Shallow ace- stubby, and some irregularity of the carpal and tarsal bones is also tabula with dislocation of both femoral heads shown also-a feature some- found. times seen in this condition.
The term 'spondyloepiphyseal dysplasia' (SED) is used to embrace a group of conditions characterised by platyspondyly and dysplasia of other hones. The degrees of spinal and tubular bone involvement and the amount of dwarfism vary between the different groups.
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.
̶̰
Spondyloepiphyseal dysplasia (X-linked recessive form) showing characteristic platyspondyly. Mounds of bone are seen on the superior and inferior parts of the pos- terior parts of the vertebral bodies. Gas is seen in the prematurely degen- erate discs.
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.
the syrnme- try distinguishing this from bilateral Perthes' disease
Dysplasia epiphysealis multiplex-angular condyles and flat intercondylar notch
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
Dysplasia epiphysealis multiplex, showing thinning of the outer part of the lower tibial epiphysis; this is seen in about half of all cases.
Marked fragmentation of patella
) 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 meta- physes are irregular.
Stippled calcifications
pituitary hypoplasia, pituitary stalk interruption, ectopic posterior pituitary, and empty sella syndrome
anencephaly, holoprosencephaly, septo-optic dysplasias, corpus callosum dysgenesis, agenesis of septum pellucidum and arachnoid cys
Sagittal T1W image of brain reveals enlarged sella filled-up with cerebrospinal fluid (CSF) (asterisk). Pituitary gland appears flattened along the floor of sella (arrow). The sella is also expanded due to CSF pulsations
ACTH secreting pituitary microadenoma in a patient with clinical features of Cushing's disease and increased serum cortisol level. High resolution dynamic contrast enhanced T1W coronal (a) and sagittal (b) images of brain (at 60 seconds) show a small non enhancing (dark) microadenoma (arrow) lateralized to right side of the pituitary gland. The normal pituitary gland shows marked homogenous enhancement
before the age of 8 years in girls and before 9 years in boys
Hypothalamic hamartoma in a male child with central precocious puberty and short stature. Magnetic resonance imaging (MRI) brain, plain (a) and post-contrast (b) sagittal images demonstrate a small well-defined, non-enhancing rounded suprasellar mass arising from hypothalamus (arrow). Note that the lesion is isointense to normal brain parenchyma