1977, British Journal of Radiology, 50, 302-311

Radiological aspects of the vertebral components

of osteochondrodysplasias
ByS. Schorr, M.D.
Professor of Radiology, Tel-Aviv University School of Medicine; Head, Diagnostic X-ray Departments,
Municipal Government Medical Centre Tel-Aviv/Yaffo
and C. Legum, M.D.
Lecturer in Paediatrics, Tel-Aviv University School of Medicine; Head, Genetics Unit, Municipal Government
Medical Centre, Tel-Aviv/Yaffo
(Received January, 1976 and in revisedform August, 1976)
ABSTRACT

Analysis of the individual components of the vertebrae

permits the radiologist to identify and understand the
fundamental physio-pathologic growth mechanisms affecting shape, size and architecture which operated during
development. The achievement of this goal is facilitated by
systematically paying attention to changes of the vertebral
end-plates, anterior and posterior aspects of the vertebral
body, the vertebral rim, neurocentral junction and interpedicular distance. The dynamic changes noted in followup studies of the spine in certain dysplasias may reveal the
developmental history of the vertebral complex. The
dimension of time is an important factor, which the radiologist has a unique opportunity to exploit. Vertebral configuration permits radiological analysis and diagnosis.

The tendency when describing spinal dysplasias is

to emphasize the growth disturbances of the cartilaginous end-plates of the vertebral body, while neglecting the other components of the vertebra. Each
element (the vertebral body, both end-plates and the
neural arch) has its own intrinsic growth properties.
However, growth and development of the various
components of the vertebrae are interdependent and
cannot be dissociated. The individual vertebra is an
anatomical structure with both static and dynamic
functions. Much can be learned about the whole
vertebral complex by studying the aberrant growth
and development of the dysplastic vertebra. The
radiologist can study only those developmental
phases which can be visualized on the radiograph,
i.e. the ossification but not the chondrogenetic
phase. By using the important dimension of time,
the radiologist can achieve some retrospective understanding. Any change in the vertebral complex
from infancy to adult life is a dynamic continuum.
The abnormal morphologic configuration and size of
a single or a group of vertebrae is the result of reactive responses to many factors and forces. These may
be grouped under several headings: intrinsic, constitutional, dysplastic factors; extrinsic forces, i.e.
weight-bearing, muscle-tendon activity; metabolic
and endocrine factors.
The fundamental mechanism of vertebral dysplasias is a disturbance in coordination of the various
processes of bone growth and formation. Therefore,

it is important to consider the overall changes produced by both enchondral and periosteal vertebral
growth, rather than those of enchondral growth alone.
The purpose of this paper is to point out the
growth behaviour of the components of the vertebral complex in some dysplastic conditions.
VERTICAL GROWTH (END-PLATES)

According to Schmorl (1928), the longitudinal

growth of the vertebral body takes place by enchondral development through the epiphyseal endplates. Bick and Coppel (1950) have shown that
the body of the human vertebral grows like the diaphysis of a long bone with true proximal and distal
epiphyseal plates. Furthermore, the body of the
vertebra is subject to the same deforming factors
which influence the growth of long bones. Therefore,
the same pathologic conditions which affect the
growing epiphyseal plates of long bones may affect
the vertebrae. Growth of the vertebral body in the
vertical plane or height takes place equally in the
superior and inferior cartilaginous end-plates
(Schmorl 1928; Knutsson 1961; Bick and Coppel,
1950), which play the dominant role in vertebral
growth. A defect in the end-plates of the vertebral
body has a greater impact in producing deformity than
a defect in the periosteal growth potential.
In tubular bones a delay in enchondral growth
with continuing periosteal growth results in the production of short thick bones with flaring ends. In
vertebral dysplasias this dual combination produces
an effect on vertical, sagittal and transverse growth
resulting in flattened vertebral bodies.
Platyspondyly (flat vertebrae) is not a fully satisfactory term because it refers only to the vertical
diameter and fails to emphasize the accompanying
defects in other vertebral components and diameters.
An adequate description of morphological vertebral changes should include the antero-posterior
(sagittal on the lateral view) and transverse diameters (on the A.P. view), defects of the neural arch
and the interpedicular distance. Platyspondyly is

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FIG. 1.
S., female, at 5, 11 and 18 years of age. Dyggve-Melchior-CIausen disease (DMC). Generalized platyspondyly, double humplike elevation of both end-plates with central constriction, posterior scalloping and anterior cut-off.

usually the dominant, but not the sole feature in

defective growth of the vertebrae. While the enchondral body growth lags behind, periosteal growth
may increase the circumference of the vertebral
body.
The superior and inferior end-plates are affected
differently in various chondrodysplastic conditions.
It seems that it has not been sufficiently stressed that
the end-plate does not behave uniformly along its
entire surface in various dysplasias. Thus, in Dyggve-Melchior-CIausen disease (DMC), the vertebral end-plates have a double elevation deformity
and a central constriction with a double camel-hump
like appearance (Figs. 1A, B, C) (Table I), a sign that

TABLE I
RADIOLOGICAL FINDINGS IN DYGGVE-MELCHIOR-CLAUSEN
(DMC) DISEASE: SPINE

Generalized platyspondyly
Double camel-humps with constriction
In the centre of both vertebral end-plates
Anterior vertebral cut-off or pointing
Posterior scalloping
Normal interpediculate distance
Hypoplastic odontoid process
No hypoplastic vertebrae
No gibbus
No horizontal os sacrum

together with a typical pelvis and iliac crest establishes the diagnosis (Schorr et al. 1977.)
In x-linked recessive spondyloepiphyseal dysplasia tarda (SED tarda), the end-plate has a single

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FIG. 2.
H.F., female, at four and 13 years of age. Spondylometaphyseal dysplasia (SMD). Generalized platyspondyly, increased
sagittal and transverse diameters, lateral to the pedicles manifested in early childhood. The vertebral bodies, especialy in the
thoracic region, are pointed anteriorly.

hump which slopes gradually from the centre posteriorly. Spranger (1975) considers this to be a valuable diagnostic sign.
In spondylometaphyseal dysplasia (SMD) the
end-plate surfaces are irregular, with no elevations
or humps (Figs. 2A, B) (Table II).

TABLE II
SPONDYLO-METAPHYSEAL DYSPLASIA (SMD): SPINE

Generalized platyspondyly
Increased ant.-post, diameters of vertebral body
Extension of the transverse diameter
External to the pedicles
Anterior pointing especially of thoracic vertebrae
Irregular end-plates, no elevation
Lumbo-sacral IPD equal or normal

In spondyloenchondrodysplasia there exists a

severe disturbance of chrondroosteogenesis, resulting in thickened flat, irregular end-plates (Schorr
et al, 1976) (Figs. 3A, B, C, D).
In Morquio's disease there is a central oval configuration of the end-plate during childhood which
becomes flattened and rectangular in adulthood
(Fig. 4). In the heterozygous form of achondroplasia,
the vertebral body is small and cuboid in early
childhood but has a regular flat end-plate in later
childhood (Figs. 5A, B, C, D).
In thanatophoric dwarfism the severely flattened
vertebra has a " H " or " U " shaped end-plate deformity on the antero-posterior view and marked
central notching on the lateral view (Figs. 6A, B).
The epiphyseal or vertebral ring of Bick (Bick and
Coppel, 1951) is primarily a cartilaginous structure

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which ossifies separately and behaves as an apophysis. This ring takes no part in the growth of the
vertebral body. Small calcined foci appear in the
cartilaginous rims at about seven to nine years of
age. These calcified foci gradually ossify and fuse
with the vertebral body to form the bony vertebral
rim around the twelfth year. By 17 years of age, the
spongiosa of the vertebral body has penetrated into the

bony vertebral rim and can no longer be distinguished radiologically (Schmorl and Junghans, 1971).
In certain dysplastic conditions there is a definite
delay in fusion of the vertebral ring, which produces
distortion of the anterior superior and inferior corner of the vertebral bodies. Thus, in achondroplasia
and in the Hunter-Hurler mucopolysaccharidoses
involvement of the vertebral ring produces some distortion of the anterior corners of the vertebral bodies
which may have an irregular or rounded-off appearance (Figs. 7A, B). In Morquio's disease, the vertebral ring is irregular and grossly distorted and
ossification and fusion to the vertebral body is severely delayed (Fig. 4).

D
FIG.

3
A.Y., male, aged three years and 13 years. Spondyloenchondrodysplasia. A.P. and lateral views of spine (normal
male radiograms of the same age on the right for comparison). Note the generalized platyspondyly, irregularity of
both end-plates, islands of unossified cartilage and lack of
ossification of the neurocentral junction in the vertebral
bodies. At 13 yearsnote especially the increased A.P. and
lateral diameters and the markedly disturbed chrondroosteogenesis.
(With the permission of the publishers of Radiology).

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HORIZONTAL AND SAGITTAL GROWTH OF THE
VERTEBRAL BODY (CIRCUMFERENTIAL GROWTH)

Horizontal and sagittal growth takes place by

periosteal membraneous bone formation. Knutsson's
(1961) observations on the growth of the vertebral
body in Scheuermann's disease indicate that the
sagittal (antero-posterior) growth does not occur
concentrically to the same extent in all directions
from the centre of the vertebral body. Appositional
growth takes place at the anterior surface of the
vertebral body, but not on the posterior surface.
Erdheim (1931) demonstrated that in acromegaly,
periosteal ossification by apposition of new bone is
greatest anteriorly, slightly less on the lateral surfaces and absent on the posterior surface.
In spondyloepiphyseal dysplasia tarda, the generalized platyspondyly is accompanied by an apparent increase in the anterior-posterior diameters
and a short anterior aspect of the vertebral body
resulting in a trapezoid-triangular shape. In addition
there is anterior pointing of the vertebral body.
In spondylometaphyseal dysplasia (SMD) (Figs.
2A, B) there is an increase in the anterior-posterior
diameter, mainly as a result of growth external to
the pedicles.
In both Dyggve-Melchior-Clausen disease (DMC
(Fig. 1) and spondyloenchondrodysplasia (SEnD)
(Figs. 3A, B), the anterior-posterior diameter of the
vertebral body is greater than that found in normal
controls of the same age and sex. In adults, there is a
tendency for the increased antero-posterior diameter to diminish and approximate to the normal.
Swischuk (1970) has postulated that the thoracolumbar hooked or notched anterior aspect of the
vertebral body frequently seen in infants and
young children is due to muscular atonia and the
exaggerated normal physiologic kyphosis of this age.
This results in anterior herniation of the nucleus
pulposus with intravertebral disc narrowing. Although this sequence of events is plausible, there are
additional intrinsic growth disturbances at the anterior and lateral surfaces. Morphologic abnormalities at the anterior and lateral vertebral borders are
not limited to the thoraco-lumbar region but also
occur in the upper and mid-thoracic and lower
lumbar regions. These changes are well demonstrated in the genetic mucopolysaccharidoses as in
Hunter's disease (Figs. 7A, B) and in DyggveMelchior-Clausen disease (DMC) (Figs. 1A, B, C).
FIG. 4.
D.L., female, nine years of age, Morquio's disease. Note the
flattened-oval shaped vertebrae with anterior tonguing,
especially in the lower thoracic vertebrae. Hypoplastic first
lumbar vertebral body. The vertebral rings are grossly
distorted. Scalloping of the posterior aspects of the vertebral
bodies.

THE NEURAL ARCH AND POSTERIOR ASPECT OF

THE VERTEBRAL BODY

According to Schmorl (1928), the ossification

processes involving vertebral bodies and vertebral

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1977

osteochondrodysplasias

FIG. 5.
B., female(A) at 2 days of age, (B) 5 months of age, (c) 6 years of age, (D) 12 years of age. Achondroplasia. The vertebral
bodies are cuboid in infancy and rectangular in childhood. Short pedicles, narrow canal, scalloping of the posterior aspects
of the vertebral bodies, increasing with age.

arches are not uniform. Enchondral ossification of

the vertebral body develops with the ingrowth of
blood vessels, while the vertebral arch develops by
perichondral ossification. Since growth takes place
only anteriorly and laterally and not posteriorly, the
posterior margin of the vertebral body is established
at birth. The bony spinal canal is limited anteriorly
by the vertebral body. The growth of the vertebral
arch determines the development of the spinal
canal. The main site of growth of the arch is the
cartilage bridging the arch and the vetebral body
{i.e. neurocentral synchondroses). As the arch grows
backward due to continuous growth at the cartilaginous bridge, the distance between the pedicles and
the sagittal (A.P.) diameter of the spinal canal increases. The sagittal diameter of the spinal canal
increases fairly rapidly from birth until five to ten
years of age. The bridge between the vertebral body
and the arch gradually fuses between the third and
the sixth year of life. Thereafter, the neural arch
grows by deposition and resorption of bone.

Shortening of the pedicles due to delayed dysplastic enchondral growth at the neuro-central
junctions (NCJ) will reduce the antero-posterior
diameter of the spinal canal. There is also a shortening of the lumbo-sacral interpedicular distance
and exaggeration of the concavity of the posterior
vertebral body surfaces ("scalloping") (Mitchell,
1967). Marked posterior concavity of the vertebral
body is commonly seen in dysplastic conditions such
as in achondroplasia (Figs. 5A, B, C, D) and hypochondroplasia, in certain mucopolysaccharidoses
and mucolipidoses, such as Hunter's disease
(Figs. 7A, B), Morquio's disease (Fig. 4) and in
Dyggve-Melchior-Clausen disease (DMC) (Figs.
1A, B, C).

Variations in the interpedicular distance seem to

be able to occur independently of vertebral body
development. The lumbosacral interpedicular distance (IPD) seems to be an almost independent
component of vertebral development. Thus, there
are some dysplastic conditions in which the main

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FIG. 6.
A stillborn female with thanatophoric dwarfism. Severe generalized platyspondyly, wide disc spaces. (Gas in the aorta and
vessels.)

feature is a constant narrowing of the lumbosacral

IPD, achondroplasia (Fig. 8) and hypochondroplasia
(Fig. 9).
Even though scalloping is a main feature of certain dysplasias, as illustrated in Hurler-Hunter,

Morquio and DMC disease, the interpedicular distance is not reduced in these conditions. Only in
achondroplasia and hypochondroplasia do IPD and
scalloping co-exist. In diastrophic and metatropic
dwarfism, the lower lumbo-sacral IPD may show

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Radiological aspects of the vertebral components of osteochondrodysplasias

7.
Hunter type of mucopolysaccharidosis.
(A) J., male, three years old. Note the involvement of the
antero-superior vertebral corner, mild scalloping.
(B) Z.I., male, eight years old. Note the marked scalloping
and hypoplastic and fifth lumbar vertebrae.
FIG.

the normal progressive increment or may remain

constant.
The delay in maturation of the neuro-central
junction (NCJ) is well illustrated in spondyloenchondrodysplasia (SEnD) (Figs. 3A, B). In this
condition, the NCJ does not fuse until late adolescence.
It is most important to stress the time factor in the
appearance of radiological signs in dysplastic conditions of the vertebra. While certain conditions are
already present at birth (Table III) or even recognizable occasionally in intra-uterine life, some
dysplastic states are detectable during infancy and
early childhood (Table IV), whilst others are only
recognizable later in childhood (Table V).
TABLE III
DYSPLASTIC VERTEBRA MANIFESTED AT BIRTH

FIG. 7B.

TABLE IV
DYSPLASTIC VERTEBRAE MANIFESTED IN EARLY
CHILDHOOD

Hurler-Hunter (MPS I, II)

Morquio (MPS IV)
Dyggve-Melchior-Clausen (DMC) disease
Spondylometaphyseal dysplasia (SMD) (Kozlowski)
TABLE V

Thanatophoric dysplasia (ThD)

Achondrogenesis
Achondroplasia (hetero-, homozygous)
Chondrodysplasia punctata
Metatropic dwarfism
Spondylo-epiphyseal dysplasia congenita (SED cong.)
Osteogenesis imperfecta congenita (OIC)

DYSPLASTIC VERTEBRAE MANIFESTED IN LATE CHILDHOOD

Multiple epiphyseal dysplasia (Fairbank)

Spondyloepiphyseal dysplasia tarda (SED tarda)
Pseudoachondroplastic dysplasia
Mucolipidoses
Osteogenesis imperfecta tarda
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FIG. 8.
S.R., female, at six and 12 years of age with achondroplasia.
Note the characteristic progressive narrowing of the
interpediculate distance in the lumbo-sacral region.
SUMMARY

The normal growth of a vertebral body is analogous to the normal growth of a tubular bone. In dysplastic conditions the vertebra is subject to similar
abnormal growth factors. Various aspects of the
separate vertebral components in dysplastic growth
are discussed. The radiological features of dysplastic
conditions of vertical growth (end-plates), the
apophyseal rings, sagittal and horizontal (circumferential) growth, the posterior vertebral body aspect,
the neuro-central junction and the lumbo-sacral
interpedicular distance are analysed separately.
The differential radiological features of the dysplastic spine in various clinical entities are described.
The importance of the time factor in differentiating
FIG. 9.
between these entities is documented.
B.R., male, five years old with hypochondroplasia. Narrowing of the lumbo-sacral interpediculate distance.
Dysplastic changes should lead to further investigation of growth in the normal and diseased states.
REFERENCES
BICK, E. M., and COPPEL, J. W., 1950. Longitudinal growth
of human vertebrae. A contribution to human osteogeny.

1951. Ring apophysis of human vertebra. A contribution

to human osteogeny. Journal of Bone and Joint Surgerv,
33-A, 783-787.

ERDHEIM, J., 1931. Ueber Wirbelsaeulenveraenderungen

Journal of Bone and Joint Surgery, 32-A, 803-814.

310

bei Acromegalie. Virchov's Archives of Pathological Anatomy, 281-297.

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Radiological aspects of the vertebral components of osteochondrodysplasias

KNUTSSON, F., 1948. Observation in the growth of the
vertebral body in Scheuermann's disease. Acta Radioloca, 30, 97-104.
1961. Growth and differentiation of post-natal vertebra.
Acta Radiologica, 55, 401-408.
MITCHELL, G. E., LOURIE, H., and

BERNE, A. S.,

1967.

The various causes of scalloped vertebrae with notes on

their pathogenesis. Radiology, 89, 67-74.
SCHMORL, G., 1928. Ueber bisher nur wenig beachtete
Eigentuemlichkeiten ausgewachsener und kindlicher
Wirbel. Archiv f. klinische Chirurgie, 150-420.
SCHMORL, G., and JUNGHANS, H., 1971. The human spine in

Stratton, New York and London).

SCHORR, S., LEGUM, C , and OCHSHORN, M., 1976.

Spon-

dyloenchondrodysplasia. Radiology, 118, 133-139.

1977. The Dyggve-Melchior-Clausen Syndrome. American Journal of Radiology, 128 (/), 107-113.
SPRANGER, J., 1975. Spondyloepiphyseal dysplasias. Disorders of connective tissue. Bergsma, D. (ed.). In Birth
defeds: Original article series, vol. 9, No. 3, pp. 177182
(The National Foundation March of Dimes)
SWISCHUK, L. E., 1970. The beaked, notched or hooked
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health and disease. Second American edition (Grune and

Book review
Bones and Joints {Monographs in PathologyNo. 17). Edited
by L. V. Ackerman, H. J. Spjut, and M. R. Abell, pp. xi +
349, 190 illus., 1976 (Baltimore, The Williams and Wilkins
Company), 27-00.
The long course on diseases of bones and joints, sponsored
in 1975 by the United States - Canadian Division of the
International Academy of Pathology, was aimed at "continuing education for pathologists and clinicians", and this
publication will undoubtedly accomplish this objective.
The 17 contributions are introduced via embryology and
bone structure, followed by two chapters on radiology, two
on immunology and 11 on clinical pathology and morbid
anatomy, these embracing metabolic bone disease, osteomyelitis, idiopathic aseptic necrosis, arthritis, Paget's
disease and a wide range of tumours. With several exceptions the style is mainly discursive and all may be read with
profit; some are outstanding, notably the sections devoted to
infections, aseptic necrosis, arthritis, synovial tumours and
giant cell lesions.

The two chapters by radiologists are devised to help

pathologists and clinicians, and the more senior radiodiagnostician will gain but little here in his own speciality,
although perusal of the chapters commended above certainly
aids the correlation of radiological changes with the underlying pathology.
An extensive bibliography and ample subject index are
provided, and the illustrations are mostly well selected and
reproduced. Few mistakes mar this book, but one deplores
the substitution of a radiograph print of a radius and ulna
for a humerus claimed to be the first recorded chrondroblastoma of the diaphysis of that bone. One confusing
legend was noted, and the last chapter has the quaint running
title of "small tumors of bone". Whilst not seriously detracting, these and other textual errors give the impression
that the prestigious editors (or their underlings) have sometimes been "caught napping" in performing an otherwise
praiseworthy exercise.

311

C. H. G. PRICE.