Vol 22 congenital 3

Volume 22

Congenital Defects (Part 3) Ellis VanCreveld syndrome

Metaphyseal dysplasias (Jansen’s & Schmid)

Osteopetrosis

Craniometaphyseal dysplasia (Pyles disease)

Osteopathia striata

Osteopoikilosis

Melorheostosis

Engelman’s dysplasia

Pyknodysostosis

Marfan’s Syndrome

Ehlers-Danlos Syndrome

Ellis VanCreveld Syndrome

(chondro-ectodermal dysplasia)

Ellis VanCreveld syndrome is an autosomal recessive disorder

and a variant of achondroplasia with an acromelic shortenng of

the distal limb bones. The face and skull appear normal but the

short stature is noted at birth. Polydactyly and failure of

segmentation of the major carpal and tarsal bones is noted.

Ectodermal defect include hypoplastic nails, dysplastic teeth and

alopecia. Septal heart defects can result in childhood death.

Case #1 Ellis VanCreveld Syndrome

Acromelic dwarfism in a young girl with polydactylism

Acromelic shortening of

long bones with normal

epiphyses

Polydactylism with

hypoplastic nails &

stubby digits

X-ray shows severe

acromelic hypoplasia

of phalanges and

failure of segmentation

of carpal bones

Metaphyseal Dysplasias

(dysostoses)

(Metaphyseal dyschondroplasia) The metaphyseal dysplasias are a group of familial conditions

in which there is an over production of hypertrophic cartilage on

the metaphyseal side of the growth plate second to a deficiency

of a glycolytic phosphorolase enzyme system that is responsible

for the normal breakdown of cartilage near the zone of

provisional calcification to allow vascular invasion and primary

osteoid formation. The resulting excessive hypertrophic cartilage

produces a widened growth plate with irregular tongues of

cartilage growing into a widened or flarred out metaphyseal

face as seen in rickets but with normal blood chemistries. The

three main sub types include Jansen’s, Schmid and McKusick

types.

The Jansen’s Type is the most severe and presents at birth

with very short limbs but a normal appearing face, skull and

spine. This condition is very rare and is autosomal dominent. The

growth plates are widened with flarred out metaphyses as seen

in rickets but with normal chemistries. The normal length ribs

show rachitic nobby costochondral junctures.

The Schmid type is a milder form of metaphyseal dysplasia

that presents with dwarfism mostly in the lower extremities at

a pre school age. This type is more common and is autosomal

dominent. The growth plates look like rickets and the blood

chemistries are normal.

The McKusick type is similar to the Jansen type with fine

light colored hair, very short limbs and a complex immune

deficiency some times referred to as cartilage - hair hypoplasia.

This type is autosomal recessive and has ricketic appearing

growth plates.

Case #1 Jansen’s Type Metaphyseal Dysplasia

Young boy with short limbs with wide growth plates like rickets

Normal appearing chest x-ray

except for nobby costochondral

junctures & wide growth plates

as seen in rickets

Normal appearing spine

Normal skull but rachitic looking

growth plates and short phalanges

in the foot

Case #2 Jansen’s Type

2.5 yr female with bowed legs and lytic metaphyseal streaking

Case #3 Schmid Type Metaphyseal Dysplasia

3 yr female with bowed short

lower extremities with wide plates

Case #4

Metaphyseal Dysplasia

Schmid Type

Young boy with short

lower extremities and

rachitic growth plates

with normal chemistries

Metaphyseal Dysplasia Pseudo Cases

Hypophosphatasia Battered Child

syndrome

Osteopetrosis

(marble bone disease) Osteopetrosis is an intrinsic genetic defect in the osteoclastic

remodeling system of the developing skeleton. There are at least

four different clinical types of the disorder with the two major

groups being the autosomal recessive infantile and the auto-

somal dominant delayed type. All these types are alike regarding

the radiographic finding of osteosclerosis at the ends of long

bones and the appearance of a bone within a bone seen in the

shorter bones of the hands, feet and vertebrae.

The infantile type is a very severe form that is usually fatal

before age ten years because of a deficient bone marrow resulting

in anemia, thrombocytopenia and infectious complications

leading to an early death. The metaphyseal areas are frequently

rectangular in shape due to a remodeling failure of the primary

bone coming off the growth plates. The occurrence of radiolucent

transverse bands in these widened metaphyses suggests an

intermittent metabolic process such as we see in cretinism or in

cases of fluoride, phosphorous and lead poisoning. Stenosis

of the basilar skull areas can result in hydrocephalus and cranial

nerve entrapment of the optic, auditory and facial nerves.

The delayed type is the more common form seen in adults

and has the same osteosclerotic bones which have a high incidence

of transverse pathologic fractures which are difficult to treat

with conventional plates and IM nails and because of the

deficient bone marrow the increased chance of an operative

infection is a major concern.

Other less common forms include a milder intermediate

recessive type and osteopetrosis with renal tubular acidosis

with cerebral calcifications referred to as marble brain disease

or Sly’s disease. It is also of interest to note that with the extensive

use of biphosphanates in the treatment of osteoporosis to inhibit

osteoclastic remodeling we are beginning to see mild cases of

iatrogenic osteopetrosis with transverse pathologic fractures.

Case #1 Infantile Osteopetrosis

8 yr female with extensive osteosclerotic bones with transverse

metaphyseal radiolucent bands and healed fracture L femur

Skull film shows dense bone

at skull base with hammered

metal appearance from early

posterior suture line closure.

Growth plate and metaphyseal

bone biopsies to your right

Case #2 Infantile Osteopetrosis

3 yr female with osteosclerotic long bones & bone within a bone

appearance in the metacarpal bones and phalanges of the hand

Case #3 Delayed Type Osteopetrosis

39 yr male with mild adult delayed type osteopetrosis with

transverse pathologic fracture left femur

Osteosclerotic changes seen in the hands and feet

Osteosclerotic bones seen in the

calvarium


Older case of osteopetrosis with dense thick skull and

sandwiched vertebral bodies


Young adult with bone within a bone radiographic

appearance of the pelvis and sandwiched vertebral bodies


70 yr old male with pathologic

fracture L femur treated with a

DHS plus a R THA seen at 5 yrs.

Biopsy material from THA surg.

Craniometaphyseal Dysplasia

(Pyle’s Dysplasia)

This condition can be autosomal dominant or recessive and is

the result of a failure of osteoclastic remodeling in the lower

metaphyseal areas of long bones. Radiographically, these long

have an Erlenmeyer flask appearance with thin cortices

and a failure of development of a medullary cavity. The bone

density is more osteopenic compared to the dense sclerotic bone

seen in osteopetrosis. The recessive forms of this disease are

accompanied by severe facial abnormality including hyper-

telorism and a broad mass at the base of the nose. Thickening

of the basilar skull bones can result in cranial nerve entrapments

including the optic, auditory and facial nerves.

Case #1 Craniometaphyseal Dysplasia

This teen aged girl demonstrates the

facial abnormalities and Erlenmeyer

flask deformities of long bones seen

in Pyle’s dysplasia

Osteopathia Striata

(Voorhoeve’s Disease)

Osteopathia striata is a very rare focal variant of osteopetrosis in

which longitudinal streaks of osteosclerotic bone are found as

incidental findings in the radiographic study of long bones and

may be related to other variants including osteopoikilosis and

melorheostosis. The condition is probably autosomal dominant

and can be related to focal dermal hypoplasia (Goltz’s syndrome).

These sclerotic streaks are non reactive on bone isotope studies

and are seen as signal voids on all MRI sequences similar to

bone islands.

13 year old female

with short left leg

Case #1 Osteopathia Striata

Case #2 Osteopathia Striata

63 year old female with incidental findings of osteosclerotic

streaking of both hips

Osteopoikilosis

Osteopoikilosis or spotted bone disease is another patchy

asymptomatic osteosclerotic condition that may be picked up

as an incidental finding during a radiographic examination. The

condition may be familial with an autosomal dominant pattern.

25% of cases demonstrate cutaneous lesions consisting of fibro-

collagenous infiltrates as those seen in scleraderma. The

numerous small round to oval shaped bony foci are usually

clustered around periarcticular osseous regions including the

hands and feet. These body foci will not light up on a bone

isotope scan which helps to rule out the diagnosis of metastatic

blastic lesions such as prostate cancer. Osteopoikilosis may be

related to other osteosclerotic dysplasias such as bone islands,

osteopathia striata and melorheostosis and at times one will

experience combinations of these conditions.

Case #1 Osteopoikilosis

Young adult male with numerous

small periarticular bony foci

Case #2 Osteopoikilosis or multiple bone islands

45 year female with multiple small pelvic bone islands

Melorheostosis Melorheostosis is a rare non familial disorder that starts in early

childhood. It my begin with pain and stiffness in the joints of the

lower extremity associated with a flowing endosteal or periosteal

hyperostosis that may follow a sclerotomal or hemimelic pattern

down one half of the involved lower extremity. It is less

commonly seen in the spine and upper extremities. A linear

scleraderma like skin fibrotic atrophy can be seen overlying the

bony hyperostosis. It can be seen in combination with other

osteosclerotic dysplasias such as osteopathia striata and osteo-

poikilosis. In the more severe adult forms one can see flowing

hyperostosis extending across periarticular structures leading up

to an extra-articular ankylosis requiring surgical debriedment to

regain motion. As opposed to the other ostosclerotic dysplasias

the hyperostotic bone of melorheostosis may light up on a bone

isotope scan. The biopsy material shows a non reactive lamellar

bone with a haversion system and evidence of marrow fibrosis.

Case #1 Melorheostosis

Young adult male with pain and stiffness in left knee and

hip for years with a candle wax flowing hyperostosis

extending laterally over hip and knee and down the fibula

Case #2 & 3 Melorheostosis of feet

Flowing periosteal hyperostosis in a sclerotomal pattern in two

cases of melorheostosis of the feet with biopsy specimen

Case #4 Melorheostosis of pelvis

25year male with incidental osteosclerotic lesion in ilium

Case #5 Melorheostosis hip

T-1 MRI

41 yr female with flowing endosteal hyperostosis flowing

across the hip joint into the medial aspect of the femur


12 year old male with flowing enosteal hyperostosis of femur,

leg bones and foot and ankle


38 yr old female with incidental finding in fibula after ankle sprain

Case # 8 & 9 Melorheostosis spine and hand

Incidental osteosclerotic lesions of multiple vertebral bodies

in one patient and the finger of another young adult male

Case #10

33 year male with incidental finding in left upper extremity

Melorheostosis Upper Extremity

Case #10 Melorheostosis of Knee and Foot

20 yr old female with

childhood varus knee

deformity

Diaphyseal Dysplasia

(Camurati-Engelmann’s disease) Diaphyseal dysplasia is an autosomal dominant condition that

affects boys more than girls and begins in the first decade of life

with symptoms of muscle pain and atrophy mainly in the lower

extremities that can mimic muscular dystrophy. Radiographic

findings include fusiform thickening of the diaphyseal portions

of long bones of a symmetric nature in the lower extremities but

can be seen in the upper extremities, spine and base of the skull.

The cortical thickening is the result of combined endosteal and

periosteal reactive bone formation that results in a positive uptake

on the bone isotope scan. CT scans will show narrowing of the

medullary canals. The epiphyseal bones are not involved. The

condition tends to arrest spontaneously at mid life.

Ribbing’s disease is a less severe variant of Engelmann’s

disease that is asymptomatic and is confined to just the lower

extremities.

Case #1 Diaphyseal Dysplasia

Symmetric diaphyseal sclerotic thickening of long bones

Fusiform sclerotic thickening of the humeri along with sclerotic

changes in the ribs and vertebrae

Pyknodysostosis

Pyknodysostosis is an autosomal recessive disorder consisting

of a generalized osteosclerosis of the skeletal system except for

the calvarium where there is bone deficiency with delayed closure

of the suture lines and the anterior fontanelle may remain open

on into adult life as in the case of the painter Toulouse-Lautrec.

The facial bones are small and wormian bones are seen in the

skull suture lines. Along with short stature there is an acromelic

hypoplasia of the distal phalanges and hypoplastic nails.

Case #1 Pyknodysostosis

Young adult male with generalized skeletal osteosclerosis

like latent osteopetrosis except for skull with open fontanelles

and hypoplastic mandible with deformed teeth

Generalized osteosclerosis

of all tubular bones and

vertebral bodies with

acromelic hypoplasia

of distal phalanges

Case #2 Pyknodysostosis

9 year old girl with open suture lines, hypoplastic mandible,

double row of decidual teeth an dysplastic finger nails

Marfan’s Syndrome Marfan’s syndrome is an autosomal dominant condition that

involves the eye, skeleton and the cardiovascular system. It is

a collagen deficient condition related to Ehlers-Danlos syndrome

and osteogenesis imperfecta. Marfan’s patients have long limbs

which is most exaggerated distally creating the appearance of

arachnodactyly. Rib deformity is common resulting in either a

pectus carinatum or excavatum. Severe scoliosis may require

surgical correction. Ligamentous laxity of joints can be a problem

with subluxations and pes planus. Collagen deficiency of the

sclerae of the eye can be seen with a bluish discoloration similar

to osteogeneous imperfecta. Subluxation of the eye lens is

common. Cardiac abnormalities include aortic and mitral valve

insufficiency and along with thin aortic vessels puts the mean age

of death at 28 years. Marfan’s patients have normal intelligence

compared to a condition know as homocystinuria where mental

retardation is a common finding.

Marfan’s Syndrome

Long thin limbs, club feet, chest deformity & deformed teeth

Case #1 & 2

Case #3 Marfan’s Syndrome

12 year old female with arachnodactyly of hands and flat feet


Teen aged female with a

subluxation of lens and

severe scoliosis


17 year old female with Marfan’s

and bilateral acetabular protrusio

and 2ndary osteoarthritis leading

up to a bilateral THA with x-ray

appearance 10 years post op

Chondromalacic femoral head

10 yr PO

Ehlers-Danlos Syndrome Ehlers-Danlos syndrome is a combination of eleven specific

familial disorders of collagen fiber formation that are usually

autosomal dominant. The common clinical feature of these

eleven types is hyperelastisity and fragility of skin, hyperlaxity

of joints and a bleeding diathesis. These patients are usually

of Caucasian European origin and is more common in boys.

Many clinical features are shared with Marfan’s syndrome

including increased height, arachnodactyly, pes planus, scoliosis,

aortic and mitral valve defects, dissecting aortic aneurysms,

ectopia lentis and retinal detachment. Joint laxity can result in

subluxation or dislocation of joints including the shoulder, hip,

knees and finger joints. The skin is thin, hyperelastic and bruises

easily leaving cigarette paper thin scars with underlying

calcific deposits seen radiographically. Premature wrinkling of

facial skin gives the appearance of premature aging similar to

that seen in progeria. The hyperelastic joints lead to an early

problem of painful stiffness second to osteoarthritis.

Case #1 Ehlers-Danlos Syndrome

Young adult female with severe elasticity of skin and joints

Ligamentous laxity results in scoliosis, cruciate defecient knee &

talo-narvicular dislocation along with multiple atrophic skin scars

Vol 22 congenital 3

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