CONGENITAL ABNORMALITIES OF THE OSSEOUS SPINE: A RADIOLOGICAL APPROACH

CONGENITAL ABNORMALITIES OF THE OSSEOUS SPINE: A RADIO-
LOGICAL APPROACH
F.M. Vanhoenacker, A.M. De Schepper, P.M. Parizel1
The spine may act as a useful window to the diagnosis of many congenital malformations syndromes and skeletal
dysplasias.
However, radiological identification of these syndromes remains a difficult task, because there are so many syn-
dromes and dysplasias to remember.
Moreover, many spinal abnormalities are non-specific and there is much overlap between different genetic and con-
genital disorders.
Consequently, many radiologists cringe when these topics are discussed.
The purpose of this short review is to provide the general radiologist a workable primer for systematic analysis of
spinal abnormalities encountered in genetic disorders, which may be helpful in (differential) diagnosis.
Key-words: Spine, abnormalities.
For more in-depth review, we
Mendelian Inheritance in Man
accessing the International Skeletal
refer to the on-line access of the
(OMIM) on the internet directly or by
Dysplasia Web Site. In this databank,
each disorder is provided by a
unique storage number. Further dis-
From: Dept. of Radiology, University Hospital Antwerp, Antwerp, Belgium.
cussion of these details is – however
Address for correspondence: Dr F. Vanhoenacker, Dept. of Radiology, University
– beyond the scope of this brief
Hospital Antwerp, Wilrijkstraat 10, B-2650 Edegem.
review.

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38
JBR–BTR, 2005, 88 (1)
Table I. — Spinal malalignment.
Kyphoscoliosis
Thoracolumbar wedging
Cervical spine kyphosis
Spondylo-epiphyseal dysplasia congenita
Achondroplasia
Neurofibromatosis type I
Spondylo-epi-metaphyseal dysplasia
Hypothyroidism
Larsen syndrome
Pseudoachondroplasia
Mucopolysaccharidoses (MPS)
Diastrophic dysplasia
Metatropic dysplasia
Mucolipidoses (MLS)
Campomelic dysplasia
Diastrophic dysplasia
Muscular hypotonia
Burton dysplasia
Pseudodiastrophic dysplasia
Kniest dysplasia
Spondylocostal dysostosis
Neurofibromatosis
Chondrodysplasia punctata
Marfan syndrome
Fig. 1. — Os Odontoideum. There is a radiolucent defect at the
level of the synchondrosis at its junction with the body of C2,
with a separate ossification center of the dens on top of it. This
variant should not be confused with a significant finding.
Table II. — Characteristic deformity or shape of vertebral bodies.
Syndrome
Shape of vertebral body
Achondroplasia
Cuneiform
Pseudoachondroplasia
Oval with tongue like projection
MPS
Irregular platyspondyly with
inferior tongue-like projection
MPS type IV (Morquio)
Irregular platyspondyly with
central tongue-like projection
Metatropic dysplasia
Paper thin in neonates
Fibrochondrogenesis
Pear-shaped with coronal cleft
Thanatophoric dysplasia
H-shaped in AP projection
Spondylo-epiphyseal Dysplasia Tarda
Hump-shaped
Dyggve-Melchior-Clausen dysplasia
Double vertebral hump
with central constriction
Smith-McCort syndrome
Double vertebral hump
with central constriction
Fig. 2. — Thoracolumbar wedging in a
Opsismodysplasia
Paper thin
patient with mucopolysacharidosis type
Spondylometaphyseal Dysplasia
Corner type fracture
IV (Morquio disease). Note also the char-
Sickle-cell haemoglobinopathy
H-shaped appearance in
acteristic hookshaped deformity of the
lateral views
lumbar vertebrae with the presence of an
Gaucher disease
H-shaped appearance in
anterior central tongue-like projection.
lateral views
Thalassemia major
H-shaped appearance in
lateral views
Hereditary spherocytosis
H-shaped appearance in
lateral views

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PROCEEDINGS OF THE SRBR-KBVR OSTEOARTICULAR SECTION — MARCH MEETING
39
Table III. — Generalized vertebral malformation or deformity.
Platyspondyly
Anisospondyly
Tall vertebral bodies
Osteogenesis imperfecta
Osteogenesis imperfecta
Spondylocostal dysostosis
Spondyloepiphyseal dysplasia congenita
Spondylo-epiphyseal dysplasia
Osteodysplasty (Melnick-
Spondyloepiphyseal dysplasia tarda
(various types)
Needles Syndrome)
(various types)
Spondylometaphyseal dysplasia
Fuhrmann dysplasia
Spondylometaphyseal dysplasia
(various types)
Chromosomal abnormalities
(various types)
Spondylo-epi-metaphyseal dysplasia
Spondylo-epi-metaphyseal dysplasia
(various types)
Smith-McCort syndrome
Kniest dysplasia
Parastremmatic dysplasia
Arthro-ophtalmopathy (Stickler syndrome)
Achondrogenesis
Campomelic dysplasia
Homozygous achondroplasia
Homocystinuria (due to osteoporosis)
Brachyolmia spondylodysplasias
(various types)
Opsismodysplasia
Thanatophoric dysplasia
Lethal platyspondylic skeletal dysplasias
(Torrance, Luton type)
Progressive pseudorheumatoid dysplasia
Wolcott-Rallison dysplasia
Achondroplasia
Pseudoachondroplasia
Dysosteosclerosis
Morquio disease
Kniest syndrome
Dyggve-Melchior-Clausen disease
Rhizomelic dysplasia, Patterson-
Lowry type
Schwartz-Jampel syndrome
Geroderma osteodysplastica
Myhre dysplasia
Spondyloenchondrodysplasia
A
B
Fig. 3. — Radiological features of congenital vertebral fusion: A. Standard radiograph of C2-C3 fusion: The individual height of the
fused vertebrae is spared (in contradistinction with acquired fusion). Note also the slight anterior and posterior concavity, resulting
in a wasp-waist deformity. Disc rests are often present, which may be calcified. Usually, there is is associated fusion of the posteri-
or elements. B. Sagittal T2-weighted image of the cervical spine in a patient with multiple vertebral fusion anomalies. Due to motion
restriction, there is accelerated degeneration of the disc space on adjacent levels.

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40
JBR–BTR, 2005, 88 (1)
Table IV. — Vertebral malsegmentation or fusion.
Malsegmentation
Fusion
Klippel-Feil syndrome
Klippel-Feil syndrome
Chondrodysplasia punctata
Spondylocostal dysostosis
Spondylocostal dysostosis
Chromosomal abnormalities
Dyssegmental dysplasia
Spondylocarpotarsal
Ateleosteogenesis type II
synostosis syndrome
Robinow type of mesomelic dysplasia
Goltz syndrome
Myelomeningocele
Spondylocarpotarsal synostosis
syndrome
Cervico-oculo-acoustic syndrome
MURCS association
Larsen syndrome
Goltz syndrome
Multiple Pterygium syndrome
Aicardi syndrome
Alagille syndrome
VACTERL association
Diastematomyelia
Split notochord syndrome
Chromosomal abnormalities
Fœtal alcohol syndrome
Fig. 4. — Persistence of a remnant of
Goldenhar syndrome
the fetal notchord in the vertebral body
Basal cell naevus syndrome
resulting in a “butterfly” deformity. Note
Acrocephalosyndactylies
the compensatory hypertrophy of the
adjacent endplates of the vertebral
bodies above and below the butterfly
vertebra.
Table V. — Miscellaneous Vertebral abnormalities.
Sagittal clefts
Coronal clefts
Scalloping posterior wall
Odontoid hypoplasia
Abnormal bone
density
Aicardi syndrome
Chondrodysplasia
Neurofibromatosis I
Isolated
Sclerosing
Alagille syndrome
punctata (Rhizomelic
Achondroplasia
Morquio disease
bone dysplasias
Spondylothoracic
type)
Hypochondroplasia
Other MPS
dysplasia
Kniest dysplasia
Dyggve-Melchior-Clausen
Mucolipidosis III
Metatropic dysplasia
dysplasia
Spondylo-epiphyseal
Fibrochondrogenesis
Smith-McCort Syndrome
dysplasias
Dyssegmental dysplasia
Cockayne syndrome
Spondylo-epi-
Atelosteogenesis
Cheirolumbar dysostosis
metaphyseal
Humerospinal dysostosis Other chondrodystrophies* dysplasias
Taybi-Linder syndrome
Storage diseases
Dyggve-Melchior-
Weissenbacher-
Ehlers-Danlos syndrome
Clausen syndrome
Zweymüller syndrome
Marfan syndrome
Smith-McCort
Trisomy 13
syndrome
Table VI. — Narrowing or widening of the spinal canal
Narrowing of the interpediculate distance on AP view
Widening (often accompanied with posterior scalloping)
Achondroplasia
Neurofibromatosis type I
Hypochondroplasia
Marfan syndrome
Thanatophoric Dysplasia
Distichiasis-Lymphoedema syndrome
Diastrophic Dysplasia
Oto-palato-digital syndrome
Dyggve-Melchior-Clausen syndrome
Myelomeningocele
Smith-McCort syndrome
Diastematomyelia
Acrodysostosis
Pseudohypoparathyroidism
Pseudopseudohypoparathyroidism (Albright
Hereditary Osteodystrophy)
Cheirolumbar dysostosis
Hypophophataemic Rickets
Turner syndrome
Chromosomal abnormalities

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PROCEEDINGS OF THE SRBR-KBVR OSTEOARTICULAR SECTION — MARCH MEETING
41
B
Fig. 5. — Diastematomyelia. A. Coronal MPR CT: There is
widening of the spinal canal, with splitting of the spinal cord
into two hemicords. Note the presence of a bony spur between
the two hemicords. B. Axial CT: Presence of a bony spur within
the spinal canal.
A
3. Swischuk L.E., John S.D.: Bones and
soft tissues. In: Differential diagnosis in
pediatric radiology, 2nd ed. Edited by
Table VII. — Calcification of the intervertebral discs in
Swischuk L.E., John S.D., Williams &
genetic or congenital disorders.
Wilkins, Baltimore, 1995, pp. 187-344.
4. Kozlowski K., Beighton P.: Gamut
Idiopathic
index of skeletal dysplasias. An aid to
radiodiagnosis, 3rd ed. Spinger-
Klippel-Feil syndrome
Verlag, London, 2001.
Spondylo-epiphyseal dysplasia tarda
5. Spranger J.W., Brill P.W.,
Homocystinuria
Poznanski A.: Bone Dysplasias: An
Alkaptonuria
atlas of genetic disorders of skeletal
development, 2nd ed. Oxford Univer-
sity Press, New York, 2002.
6. Taybi H., Lachman R.S.: Radiology of
Congenital malformations of the
sagittal and coronal clefts, scal-
syndromes, 4th ed. Year Book Medical
spine may vary from clinically
loping, odontoid hypoplasia and
Publishers, Chicago, 1996
insignificant ones to important
abnormal bone density) (Table V
7. Reeder M.M., Bradley W.G.: Reeder
markers in the recognition or
and Fig. 4), widening or narrowing
and Felson’s gamuts in radiology.
exclusion of many bone dyspla-
of the spinal canal (Table VI and
Comprehensive lists of roentgen dif-
sias or malformation syndromes
Fig. 5) and calcifications of the inter-
ferential diagnosis, 3rd ed. New York:
Spinger-Verlag, New York, 1993.
(Fig. 1).
vertebral discs (Table VII and
8. Vanhoenacker F.M., Van Hul W.,
The most useful information is
Fig. 3).
Gielen J., De Schepper AM.: Congeni-
derived from analysis of the overall
tal skeletal abnormalities: an intro-
spinal alignment (Table I and Fig. 2),
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Eur J Radiol, 2001, 40: 168-183.
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Fig. 2), the presence of vertebral
in Man (OMIM): http://www3.ncbi.
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