vol 20 congenital 1

Congenital

Defects

Volume 20

Congenital Defects (Part 1)

Dysplasias classification

Epiphyseal defects

Stippled epiphyses

Multiple epiphyseal dysplasia MED tarda

Spondyloepiphyseal dysplasia SED tarda

Metatrophic dwarfism

Classification

Little People of America

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)

Morphologic Classification

Morphologic Classification

Classification

Tarsal epiphyseal

aclasia

Classification

Classification

Epiphyseal Defects

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-

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.

Case #1 Stippled Epiphyses

New born child with severe dwarfism but normal head and face

At birth 7 mos

7 mos 7 mos

Case #1

Case #2

Stippled Epiphyses

New born infant with

severe dwarfism but

normal appearing skull

and face along with

extensive calcific stippling

of the epiphyses

Case #3 Still born Stippled Epiphyses

Whole body radiograph of a stillborn with stippled epiphyses

and autopsy specimen of patella showing dystrophic calcification

Case #4

Stippled Epiphyses

Floppy appearing child

second to ligamentous

laxity and muscle hypotonia

and deformed ear pinna

Case #5

Stippled Epiphyses

Congenital cataracts seen

in 30% of cases

Atrophic skin around

hair follicles and patchy

alopecia

Case #6 Stippled epiphyses

Dwarfted child

with normal face

but kyphotic LD

spine similar to

Morquio’s

Case #7

Stippled Epiphyses

In a 2 yr old the limbs are restoring good length

Case #8 Stippled Epiphyses

2 yr old child with asymmetric dystrophic calcification

in both carpal areas

1 yr

4 yr

Case #9

Stippled Epiphyses

Rapid loss of dystrophic

calcification in carpal

and tarsal areas with

3 yrs of normal growth

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

lower extremities. The head and face are normal appearing

compared to the abnormalities seen in the achondroplastic

dwarf.

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

Fairbank’s Disease

Fairbank’s Disease

Universal ring apophseal ring

defects with slight kyphotic

defect at LD juncture

Normal skull and face

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

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

Case #3 MED Tarda sister of Case #2

Ring apophyseal defects of entire LD spine

Normal skull

Upper extremities

Case #4 MED Tarda knees

13 yr male with intermittent painful effusions both knees 1 yr

Surgical photos at TKA

Case #5 Pseudo MED in Cretinism

Mentally retarded child with hypothyroid dwarfism

Case #6 Pseudo MED tarda in Perthe’s

10 yr old male treated for Perthe’s syndrome for past 3 yrs

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

mainly in the lower extremities resulting in early adult life

degenerative osteoarthritis.

Case #1 Spondyloepiphyseal Dysplasia Tarda

Young adult male with universal platyspondyly LD spine

Minor epiphyseal defects in the extremities

Case #2 Spondyloepiphyseal Dysplasia Tarda

Young adult male with LD platyspondyly and loss of disc height

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.

Case #1 Early Metatrophic Dwarfism

Young child born with short limbs and normal spine

Case #2 Metatrophic Dwarf

5 yr old female with LD kyphoscoliosis and plataspondyly

In the lower extremities we see

retarded epiphyseal ossification

centers and generalized osteopenia

X-rays showing odontoid hypoplasia with C1 on 2 subluxation

requiring a posterior fusion seen to your far right