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.

1. Moderator:DR.SARFARAZ

2.  Height less than 2 or more standard
deviations below the mean for age and
gender within a population

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

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

12.  Achondroplasia
 Thanatophoric dysplasia
 Osteogenesis imperfecta
 Rhizomelic chondrodysplasia punctata

13. ACHONDROPLASIA

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

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

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

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

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

32.  Mandatory to diagnosis
 Large calvarium
 Shortened base
 Sella may be small
 Foramen magnum is characteristically
small and funnel-shaped

34.  Ribs - short
- Anterior ends widened
 Sternum -short and broad
 Scapulae - losing their sharp angles
 Glenoid fossae -small

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

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

43.  AR
 Respiratory distress
 Spine-normal
 Long bones-not curved and a little
shortened
 Thorax-stenotic
 Ribs-short and horizontal
 Clavicles-highly placed
 Polydactyly

44.  Epiphyses –present at knee
 Renal failure

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

48.  PLAIN RADIOGRAPH
Head, neck and spine
 basilar invagination
 wormian bones
 kyphoscoliosis
 vertebral compression fractures
 codfish vertebrae
 platyspondyly

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

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

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

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

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

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

73. Type -schmid

75.  Abnormality in mucopolysaccharide or
glycoprotein metabolism

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

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

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

86. Recessive variety
 Platyspondyly - generalised
 Severe wedging of the dominant form-not
found

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

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

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

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

106.  Accelerated bone maturation leading to
reduced stature
 The primary role of imaging is to detect
or exclude structural abnormalities
causing precocious puberty

108. THANK YOU