This document summarizes several congenital bone defects. It describes Ellis VanCreveld syndrome, which causes dwarfism, polydactyly, and dental/nail defects. It also discusses several types of metaphyseal dysplasias that result in abnormal growth plate formation and short stature. Osteopetrosis is described as causing excessive bone density due to osteoclast dysfunction. Craniometaphyseal dysplasia causes thinning of long bones. Other conditions mentioned include osteopathia striata, osteopoikilosis, and melorheostosis. Case studies with images are provided to illustrate the radiographic findings of several of these bone diseases.

1. 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

2. 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.

3. Case #1 Ellis VanCreveld Syndrome
Acromelic dwarfism in a young girl with polydactylism

4. Acromelic shortening of
long bones with normal
epiphyses

5. Polydactylism with
hypoplastic nails &
stubby digits
X-ray shows severe
acromelic hypoplasia
of phalanges and
failure of segmentation
of carpal bones

6. 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

7. 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.

8. Case #1 Jansen’s Type Metaphyseal Dysplasia
Young boy with short limbs with wide growth plates like rickets

9. Normal appearing chest x-ray
except for nobby costochondral
junctures & wide growth plates
as seen in rickets
Normal appearing spine

10. Normal skull but rachitic looking
growth plates and short phalanges
in the foot

11. Case #2 Jansen’s Type
2.5 yr female with bowed legs and lytic metaphyseal streaking

12. Case #3 Schmid Type Metaphyseal Dysplasia
3 yr female with bowed short
lower extremities with wide plates

13. Case #4
Metaphyseal Dysplasia
Schmid Type
Young boy with short
lower extremities and
rachitic growth plates
with normal chemistries

14. Metaphyseal Dysplasia Pseudo Cases
Hypophosphatasia Battered Child
syndrome

15. 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

16. 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 incidenc
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.

17. Case #1 Infantile Osteopetrosis
8 yr female with extensive osteosclerotic bones with transverse
metaphyseal radiolucent bands and healed fracture L femur

18. 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

19. 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

20. Case #3 Delayed Type Osteopetrosis
39 yr male with mild adult delayed type osteopetrosis with
transverse pathologic fracture left femur

21. Osteosclerotic changes seen in the hands and feet

22. Osteosclerotic bones seen in the
calvarium

23. Case #4 Delayed Type Osteopetrosis
Older case of osteopetrosis with dense thick skull and
sandwiched vertebral bodies

24. Case #5
Delayed Type Osteopetrosis
Young adult with bone within a bone radiographic
appearance of the pelvis and sandwiched vertebral bodies

25. Case #6 Delayed Type Osteopetrosis
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.

26. 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.

27. Case #1 Craniometaphyseal Dysplasia
This teen aged girl demonstrates the
facial abnormalities and Erlenmeyer
flask deformities of long bones seen
in Pyle’s dysplasia

28. 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.

29. Case #1 Osteopathia Striata
13 year old female
with short left leg

31. Case #2 Osteopathia Striata
63 year old female with incidental findings of osteosclerotic
streaking of both hips

32. 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.

33. Case #1 Osteopoikilosis
Young adult male with numerous
small periarticular bony foci

34. Case #2 Osteopoikilosis or multiple bone islands
45 year female with multiple small pelvic bone islands

35. 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.

36. 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

37. Case #2 & 3 Melorheostosis of feet
Flowing periosteal hyperostosis in a sclerotomal pattern in two
cases of melorheostosis of the feet with biopsy specimen

38. Case #4 Melorheostosis of pelvis
25year male with incidental osteosclerotic lesion in ilium

39. 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

40. Case #6 Melorheostosis
12 year old male with flowing enosteal hyperostosis of femur,
leg bones and foot and ankle

41. Case #7 Melorheostosis
38 yr old female with incidental finding in fibula after ankle sprain

42. 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

43. Case #10 Melorheostosis Upper Extremity
33 year male with incidental finding in left upper extremity

45. Case #10 Melorheostosis of Knee and Foot
20 yr old female with
childhood varus knee
deformity

46. 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.

47. Case #1 Diaphyseal Dysplasia

48. Symmetric diaphyseal sclerotic thickening of long bones

49. Fusiform sclerotic thickening of the humeri along with sclerotic
changes in the ribs and vertebrae

50. 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.

51. 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

52. Generalized osteosclerosis
of all tubular bones and
vertebral bodies with
acromelic hypoplasia
of distal phalanges

53. Case #2 Pyknodysostosis
9 year old girl with open suture lines, hypoplastic mandible,
double row of decidual teeth an dysplastic finger nails

54. 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.

55. Case #1 & 2 Marfan’s Syndrome
Long thin limbs, club feet, chest deformity & deformed teeth

56. Case #3 Marfan’s Syndrome
12 year old female with arachnodactyly of hands and flat feet

57. Case #4 Marfan’s Syndrome
Teen aged female with a
subluxation of lens and
severe scoliosis

58. Case #5 Marfan’s Syndrome
Chondromalacic femoral head
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 10 yr PO

59. 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

60. Case #1 Ehlers-Danlos Syndrome
Young adult female with severe elasticity of skin and joints

61. Ligamentous laxity results in scoliosis, cruciate defecient knee &
talo-narvicular dislocation along with multiple atrophic skin scars