4. Classification Types
The older clinical , historical classification
frequently named after the first person to
record the syndrome in the literature.
(Morquio’s)
Our present day morphologic classification
based mainly on the dominent radiologic
abnormality (Spondyloepiphyseal dysplasia)
Future classification based on knowledge
as to the biochemical molecular defect or the
actual molecular genetic defect.
(Mucopolysaccharidosis IV)
12. Stippled Epiphyses
Stippled epiphyses is a very severe or congenita form of multiple
epiphyseal dysplasia (MED) which has many diagnostic synonyms
including dysplasia epiphysealis punctada, chondrodysptrophy,
calcinosis universalis , and Conradi’s syndrome. It is the only
epiphyseal dysplasia with severe limb shortening at birth that
might suggest the diagnosis of achondroplasia except for the
normal appearance of the face and skull which might invite the
term pseudoachondroplastic MED. However, the heavy dystrophic
calcification noted a in the epiphyseal cartilage in the dwarfted
extremities is the diagnositic feature that clearly separates stippled
epiphyses from achondroplasia that has normal epiphyses at birth.
It has been suggested that the etiology of this dysplasia is second to
a deficiency of normal vascular ingrowth of the epiphyseal
cartilage that may then cause cartilage eschemia that then results in
the formation of dystrophic calcification and a delay in the appear-
13. ance of a none fragmented epiphyseal ossification center.
As time goes by if the child survives, the short limbs catch up
with growth, the stippled calcification in the epiphyses
disappears and by maturity the limb lengths may be quiet
normal.
these children have a major problem at birth because of their
long but frail ribs similar to infants with osteogenesis imperfecta
that results in an early respiratory death in half the children
during the first year of life. Because of an underlying collagen
deficiency they also appear as a floppy child second to
ligamentous laxity and hypotonic musculature.
14. Case #1 Stippled Epiphyses
New born child with severe dwarfism but normal head and face
16. Case #2
Stippled Epiphyses
New born infant with
severe dwarfism but
normal appearing skull
and face along with
extensive calcific stippling
of the epiphyses
17. Case #3 Still born Stippled Epiphyses
Whole body radiograph of a stillborn with stippled epiphyses
and autopsy specimen of patella showing dystrophic calcification
18. Case #4
Stippled Epiphyses
Floppy appearing child
second to ligamentous
laxity and muscle hypotonia
and deformed ear pinna
19. Case #5
Stippled Epiphyses
Congenital cataracts seen
in 30% of cases
Atrophic skin around
hair follicles and patchy
alopecia
20. Case #6 Stippled epiphyses
Dwarfted child
with normal face
but kyphotic LD
spine similar to
Morquio’s
21.
22. Case #7 Stippled Epiphyses
In a 2 yr old the limbs are restoring good length
23. Case #8 Stippled Epiphyses
2 yr old child with asymmetric dystrophic calcification
in both carpal areas
24. Case #9
1 yr
Stippled Epiphyses
Rapid loss of dystrophic
calcification in carpal
and tarsal areas with
3 yrs of normal growth
4 yr
25. Multiple Epiphyseal Dysplasia tarda
(Fairbank’s disease)
The tarda or mild form of MED congenita (stippled epiphyses)
is entirely different clinically in that the child is normal appearing
at birth and then shows signs of growth retardation during the
first growth spurt of life. They do not show evidence of calcific
stippling in the eipiphyseal cartilage but instead we see retarded
maturation and deformity of the epiphyseal ossification centers
which appear fragmented on radiographic examination but in
fact represents multiple centers forming in a cluster which
eventually unite at maturation. The major defects are seen in the
weight baring joints and may develop osteochondritic defects
that result in early painful osteoarthritis requiring various
arthroplasty surgical treatments. Increased ligamentous laxity
may result in developmental dislocations. These patients average
4 ft. 11 in. in height with most of the shortening seen in the
26. lower extremities. The head and face are normal appearing
compared to the abnormalities seen in the achondroplastic
dwarf.
27. Case #1
Multiple Epiphyseal Dysplasia
tarda (Fairbank’s disease)
19 yr old 4 ft 11 in male with
stiff joints and pain in both
hips and knees
29. Fairbank’s Disease
Universal ring apophseal ring
defects with slight kyphotic
defect at LD juncture
Normal skull and face
30. Fairbank’s Disease
Photo of hands shows early
osteoarthritic stiffness and
swelling of the PIP and DIP
joints (campnodactyly)
X-ray shows the early DOA of finger
joints with ulnar tilting of distal radius
31. Case #2 Fairbank’s Disease
This boy and his sister both have
MED tarda with widened and flat
appearing prox femoral epiphyses
that look like Perth’s disease.
Slanting distal radii and
subluxation of radial heads
37. Case #5 Pseudo MED in Cretinism
Mentally retarded child with hypothyroid dwarfism
38. Case #6 Pseudo MED tarda in Perthe’s
10 yr old male treated for Perthe’s syndrome for past 3 yrs
39. Spondylepiphyseal Dysplasia
SED Tarda
SED tarda is morphologically similar to Morquio’s of the
mucopolysaccharidosis group of SED congenita but differs in
that no mucopolysaccharides are found in the urine of these
patients and their growth retardation is not noted clinically
until their second growth spurt and is confined mostly to the
axial skeleton. Radiographically one will notice a universal
flatening of the LD vertabrae referred to as platyspondyly
similar to that seen in Scheuermann’s disease which is most
likely a mild form of SED tarda. Along with the defective ring
apophyses these patients develop early degenerative disc
disease with multiple vertebrae demonstrating Schmorel’s nodes
or intravertebral body disc herniations associated with early
symptoms of LD back pain. The epiphyseal changes in the
extremities are very mild compared to MED tarda and is seen
40. mainly in the lower extremities resulting in early adult life
degenerative osteoarthritis.
41. Case #1 Spondyloepiphyseal Dysplasia Tarda
Young adult male with universal platyspondyly LD spine
43. Case #2 Spondyloepiphyseal Dysplasia Tarda
Young adult male with LD platyspondyly and loss of disc height
44. Metatrophic Dysplasia
At birth the extremities are short with a normal appearing spine.
The term metatrophic means “to change” and is used here because
later in life the spine becomes shortened with kyphoscoliosis.
Minimal changes are seen in the extremity epiphyses as we see in
MED with delayed appearance of ossification centers followed
later with deformed and flatened epiphyseal caps. Hypoplasia of
the odontoid process can result in C1 on 2 instability requiring
posterior fusion to avoid cord damage.
45. Case #1 Early Metatrophic Dwarfism
Young child born with short limbs and normal spine
46. Case #2 Metatrophic Dwarf
5 yr old female with LD kyphoscoliosis and plataspondyly
47. In the lower extremities we see
retarded epiphyseal ossification
centers and generalized osteopenia
48. X-rays showing odontoid hypoplasia with C1 on 2 subluxation
requiring a posterior fusion seen to your far right
