Congenital skeletal abnormalities: an introduction to the radiological

European Journal of Radiology 40 (2001) 168– 183
www.elsevier.com/locate/ejrad
Congenital skeletal abnormalities: an introduction to the
radiological semiology
Filip M. Vanhoenacker a,*, Wim Van Hul b, Jan Gielen a, Arthur M. De Schepper a
a
b
Department of Radiology, Uni6ersity Hospital Antwerp, Wilrijkstraat 10, B-2650, Edegem, Belgium
Department of Medical Genetics, Uni6ersity of Antwerp, Uni6ersiteitsplein 1, B-2610, Antwerp, Belgium
Received 16 July 2001; received in revised form 17 July 2001; accepted 18 July 2001
Abstract
Despite the recent advances in the molecular diagnosis of congenital abnormalities, the initial identification and the decision to
refer a patient for further molecular analysis and expensive genetic tests still relies frequently on clinical and radiological criteria.
The radiological identification of syndromes, dwarfs and dysplasias is a difficult task, because there are so many findings to
consider and so many syndromes to remember that the problem is overwhelming. There is a definite need for an easy and
systematic analysis system, in order to try to categorize a skeletal dysplasia in a certain group. In this brief review, we suggest an
approach to the evaluation of skeletal syndromes, based on the analysis of cardinal criteria, from which the most useful
information is derived, and additional criteria, making further differentiation possible. Generally, cardinal information is derived
from analysis of the long bones, hands, pelvis and the spine, whereas the analysis of other skeletal elements, like the skull, feet,
and other flat bones is of additional value. © 2001 Elsevier Science Ireland Ltd. All rights reserved.
Keywords: Bones; Osteochondrodysplasia
1. Introduction
The radiological identification of syndromes, dwarfs
and dysplasias is still an important part in the practice
of the pediatric radiologist.
Although the progress of molecular genetics in the
diagnosis of these group of disorders is considerable,
the information provided by clinical and radiological
examination is still of utmost importance in the selection of candidate-patients to undergo frequently expensive
genetic
tests.
Early
recognition
of
osteochondrodysplasias will not only obviate the need
for unnecessary and costly genetic and endocrine tests,
but will also provide accurate information about management, prognosis and genetic counseling to the patient and his/her family [1].
The radiological identification of syndromes, dwarfs
and dysplasias is a difficult task, even in experienced
hands. For this reason, there is a definite need for an
* Corresponding author. Tel.: +32-3-821-3532; fax: + 32-3-8252026.
easy, systematic and reproducible analysis system, in
order to try to categorize skeletal dysplasias in well
defined (sub)groups.
In this brief review, we suggest an approach to the
evaluation of skeletal syndromes, based on the analysis
of cardinal criteria, from which the most useful information is derived, and additional criteria, making further differentiation possible.
Generally, cardinal information is derived from analysis of the long bones, hands, pelvis and the spine,
whereas the analysis of other skeletal elements, like the
skull, feet, other flat bones, and miscellaneous features
is of additional value.
2. Analysis of cardinal criteria
2.1. Long bones
The long bones have to be analyzed in a double way.
First, the length of the long bones has to be considered,
followed by a detailed analysis of their individual seg-
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169
Fig. 1. Dwarfism. Depending on the predominant involved segment, dwarfism can be divided into three main categories. (a) Rhizomelic Dwarfism
in a patient with Thanatophoric Dysplasia: there is preferential shortening of the proximal bones (humerus and femur). (b) Mesomelic Dwarfism
in a patient with dyschondrosteosis or Leri –Weill’s disease: the middle segments of the appendicular skeleton are shortened (ulna and radius).
There is also a characteristic Madelung deformity of the wrist. (c – d) Acro(-meso)melic Dwarfism. Shortening of the middle (ulna and radius) and
distal segments (long bones of the hands) of the appendicular skeleton (c), whereas the pelvis is normal (d).
F.M. Vanhoenacker et al. / European Journal of Radiology 40 (2001) 168–183
170
ments, to determine which segment (epiphysis, metaphysis or diaphysis) bears the brunt of abnormality.
The bone length is usually too short in skeletal
dysplasia, although occasionally the bones are too long,
as in Marfan syndrome and homocystinuria.
The approach for shortening of long bones in
dwarfism is a very complex problem, but for the sake of
simplicity, dwarfism can be divided into three different
groups, based on their preferential involvement of the
different segments of the extremities.
Rhizomelic dwarfism consists of predominant involvement of the proximal segments (humerus, femur)
(Fig. 1a). The middle segments (tibia, fibula, radiusulna) are affected in mesomelic dwarfism (Fig. 1b),
whereas the distal segments (acromelic) are mostly involved in acromelic dwarfism. Isolated acromelic
dwarfism is rare and is also referred to as peripheral
dysostosis. Usually acromelic dwarfism occurs in combination with mesomelic shortening (Fig. 1c and d) [2].
After the length of the long bones has been assessed,
one should try to decide whether the problem in the
individual bone is diaphyseal, metaphyseal, or epiphyseal [2].
Diaphyseal abnormalities can be subclassified in:
1. Thin and overtubulated bones (Table 1): the most
common cause is an underlying neuromuscular disorder (Fig. 2a).
Table 1
Abnormal length of long bones (modified from 2, with permission)
Overtubulation: thin, gracile Undertubulation: short, squat bones
bones
Neurologic–neuromuscular
disease
Osteogenesis imperfecta
Arthrogryposis multiplex
Marfan syndrome
Homocystinuria
Cockayne syndrome
Winchester syndrome
Progeria
Kenny–Caffey syndrome
Stickler syndrome
Hallermann–Streiff
syndrome
Seckel bird-headed dwarf
Achondroplasia
Storage diseases
Metaphyseal dysostosis
Pseudoachondroplasia
Vitamin D-resistant rickets-type B
Neonatal dwarfs
Chondrodystrophy with immune
deficiency
Patterson–Lowry rhizomelic
dysplasia
Rhizomelic punctate epiphyseal
dysplasia
Diastrophic dwarfism
Hypophosphatasia
Metatropic dwarfism
Kniest syndrome
Dyggve–Melchior–Clausen
syndrome
Camptomelic dwarfism
Larsen syndrome
Weissenbacher–Zweymüller
syndrome
Diseases in italic: most common.
Fig. 2. Diaphyseal abnormalities in long bones. (a) Overtubulation:
thin and long ulna and radius in a patient with a neuromuscular
disease. (b) Undertubulation: short and squat tibia and fibula in
achondroplasia.
F.M. Vanhoenacker et al. / European Journal of Radiology 40 (2001) 168–183
Table 2
Metaphyseal changes in congenital diseases (modified from 2, with
permission)
Flaring, widening,
cupping
Widening without
cupping
Metaphyseal
beaking
Achondroplasia
Pyle disease
Metaphyseal dysostosis
Menkes kinky
hair syndrome
Hypophosphatasia
Oto-palato-digital
syndrome
Craniometaphyseal Desbuquois
dysostoses
syndrome
Gaucher disease
Weaver syndrome
Hypochondroplasia
Pseudoachondroplasia
Thanatophoric dwarfism
Hypophosphatasia
Metatropic dwarfism
Kniest syndrome
Ellis–van Creveld
syndrome
Mesomelic dwarfism
Short rib-polydactyly
syndromes
Diastrophic dwarfism
Stippled epiphyses
congenita
Hypophophatasia
Spondylometaphyseal
dysplasia
Taybi–Linder syndrome
Osteodysplasia
(Melnick–Needles)
Phenylketonuria
Weissenbacher–
Zweymüller syndrome
Achondrogenesis
Trichorhinophalangeal
syndrome
2. Short, squat and undertubulated bones (Table 1):
the prototype here is represented by achondroplasia
(Fig. 2b).
3. Diaphyseal sclerosis: there is a whole range of sclerosing bone dysplasias, affecting the intramembranous bone formation and remodeling, which are
responsible for cortical thickening [3]. The cortical
thickening may be caused either by a disturbance in
the periosteal bone formation and apposition or due
to a defective endosteal resorption. According to the
involved mechanism, the diaphysis may be broadened (increased periosteal apposition), or the
medullary cavity may be narrowed (defective endosteal resorption). The prototype of defective endosteal resorption is Van Buchem disease, whereas
Camurati–Engelmann disease is a classical example
of predominant disturbance of the periosteal
apposition.
Metaphyseal changes consist of splaying, cupping,
widening, and irregularity (Table 2 and Fig. 3a).
Epiphyseal abnormalities include smallness, irregularity, fragmentation or calcification (Fig. 3b and Table
3).
One has to be aware that primary epiphyseal abnormalities may induce secondary metaphyseal changes,
which makes the analysis whether the abnormality is
predominantly epiphyseally or metaphyseally located
extremely difficult (Fig. 3c). This phenomenon is easy
to understand in pseudoachondroplasia syndromes
(Fig. 3b) such as multiple epiphyseal dysplasia and
spondyloepiphyseal dysplasia.
These entities are primarily characterized by small
and irregularly delineated epiphyses, which make the
adjacent growth plate vulnerable to injuries, inducing
secondary metaphyseal deformities (Fig. 3c). In those
cases, where combined epiphyseal and metaphyseal
changes are found, it is important to realize that the
epiphyseal changes are usually the cause of secondary
acquired metaphyseal changes, in order to avoid an
erroneous diagnosis [2].
Table 3
Epiphyseal changes in skeletal dysplasia (modified from 2, with permission)
Large epiphyses
Small epiphyses
Stippled epiphyses
Irregular epiphyses
Chondrodystrophies
Winchester syndrome
Trevor’s disease
Megaepihyseal
dwarfism
Hypothyroidism
Dysplasia
Multiple epiphysealSpondyloepiphyseal-
Punctate epiphyseal
Dysplasia
Warfarin embryopathy
Fetal alcohol syndrome
Dysplasia
Multiple epiphysealSpondyloepiphysealHypothyroidism
Morquio disease
Cerebrocostomandibular syndrome
Morquio disease
Trevor’s disease
Tricho-rhino-phalangeal syndrome: femoral head
Dyggve–Melchior–Clausen syndrome
Meyer dysplasia (hips)
Winchester syndrome
Zellweger syndrome
Smith–Lemli–Opitz syndrome
Diseases in italic: most common.
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Fig. 3. Metaphyseal and epiphyseal abnormalities. (a) Metaphyseal changes, consisting of splaying, cupping, widening and irregularity of the
metaphyses of the distal femur and proximal tibia in a patient with Janssen metaphyseal chondrodysplasia. (b) Epiphyseal abnormalities, in
pseudoachondroplasia syndrome: the epiphyses of the elbow joint are small, irregularly delineated and fragmented. (c) Secondary metaphyseal
changes, owing to primary epiphyseal abnormalities in Multiple Epiphyseal Dysplasia (MED). Recurrent metaphyseal trauma, secondary to
impaction of the small epiphysis into the adjacent growth plate, may cause asymetrical premature closure of the growth plate, resulting in
tibiotalar slanting in an adult patient with MED.
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173
positive metacarpal sign is seen in several congenital
abnormalities (Table 4). This sign is positive, when a
line drawn along the heads of the fourth and fifth
metacarpals intersects the head of the third metacarpal
(Fig. 5a).
Other syndromes associated with shortening of one
or more metacarpals or metatarsals are listed in Table
4.
Abnormalities in the number of hand bones are
referred to as oligodactyly (Fig. 5b), in case of lack of
fingers, and polydactyly, if there too many fingers
(Table 5). A surnumerary finger can be either preaxial
(on the radial side) or postaxial (on the ulnar side) (Fig.
5c). Polydactyly can occur in association with short
ribs, in a number of polydactyly-short ribs syndromes
(Fig. 5d and e)
Absence of digits on one or the other side of the
hand is termed either the ‘radial’ or ‘ulnar ray’ syndrome (Fig. 5f) [2] (Table 6).
Acro-osteolysis is the term used for distal phalangeal
resorption (Fig. 5). This is usually due to acquired
causes, some of the most frequent congenital cause are
summarized in Table 7.
Fusion (Table 8) occurring between two (adjacent)
fingers is called syndactyly (Fig. 6a), whereas symphalangism (Fig. 6b) refers to fusion between two phalanges within the same ray. Syndactyly can be
membranous, bony or combined. Symphalangism can
be proximal (at the proximal interphalangeal joint) or
distal (at the distal interphalangeal joint) or variable
(distally and proximally located within the same
patient).
Fusion between carpal (or tarsal) bones is a frequent
finding, which is usually isolated, but can be associated
with several syndromes (Table 8).
Fig. 4. Hand abnormalities: overall morphology. (a) Spade hand in
Hurler syndrome. (b) Trident hand in achondroplasia: note divergence of the middle three fingers at the level of the proximal interphalangeal joints.
2.2. Hand abnormalities
The first observation to be made concerns the overall
morphology of the hand. A spade hand is seen in
storage diseases (Fig. 4a), while a characteristic trident
morphology may be seen in achondroplasia (Fig. 4b).
Secondly, the length, number, and morphology of the
individual bones has to determined.
Shortening of various phalanges, thumb, and
metacarpals are seen in a number of congenital diseases. Shortening of metacarpal 4 and 5, resulting in a
Table 4
Congenital diseases characterized by a shortened metacarpals (and
metatarsals) (modified from 2, with permission)
Positive metacarpal sign
Shortening of (other) metacarpals
Achondroplasia
Turner syndrome
Various Dwarfism
Gigantism
Hyperparathyroidism
Pseudohypoparathyroidism
Pseudo–pseudohyperparathyroidism
Basal cell nevus syndrome
Beckwith–Wiedemann syndrome
Biedmon syndrome
Larsen syndrome
Multiple exostoses syndrome
Epiphyseal dysplasia
Tricho-rhino-phalangeal syndrome
Cri-du-chat syndrome
Russell–Silver dwarfism
Patterson–Lowry rhizomelic
dysplasia
Diseases in italic: most common.
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Fig. 5. Hand abnormalities: shortening and absence of individual bones. (a) Shortening of metacarpal bone 4 and 5, causing a positive metacarpal
sign in a patient with pseudohypoparathyroidism (see text). (b) Oligodactyly. (c) (Postaxial) polydactyly: a surnumerary finger is seen on the ulnar
side. (d – e) Polydactyly-short rib syndrome: association of polydactyly (d) and short ribs (e). (f) Ulnar ray syndrome: absence of the fifth finger
and ulna. (g) Acro-osteolysis in progeria: resorption of the tufts of the distal phalanges, with associated calcifications.
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175
Fig. 5. (Continued)
The most frequent abnormalities regarding the morphology of the individual bones consist of cone shaped
epiphyses of the phalanges, smallness, scalloping, and
irregularity of the carpal bones.
Macrodactyly refers to enlargement of one of more
digits and is associated with macrodystrophia lipomatosa, Proteus syndrome, neurofibromatosis, hemangiomatous or lymphangiomatous tumors of the hands
or feet.
Positional abnormalities of the fingers (and toes) can
be due to an abnormal form of a phalanx or due to
mechanical intrauterine stress. Overlapping fingers
are seen in some chromosomal abnormalities (trisomy18).
2.3. Pel6is
The following characteristics, regarding the pelvis,
may be useful in the identification of chondrodystrophies, storage disease and certain chromosomal
abnormalities:
The pelvic configuration in skeletal dysplasias can be
divided in two main types, mainly according to the
shape of the iliac wings (Fig. 7a and b). In type A, the
iliac wings are short and squared off, whereas in type B
the iliac wings have a narrow waist (Table 9).
Measurements of the acetabular angles, iliac angles
and indices are useful in the assessment of chromosomal abnormalities (Fig. 7c).
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Delayed or defective ossification of the pubic bones,
resulting in widening of the interpubic distance is seen
in most of the neonatal and infantile chondrodystrophies, but is most characteristic for cleidocranial dysostosis [4,5]. Protusio acetabuli can be seen with Turner
syndrome, osteogenesis imperfecta, and Marfan syndrome [2].
Table 6
Radial and ulnar ray syndrome
Radial ray syndrome
Ulnar ray syndrome
Klippel–Feil deformity
Ectodermal dysplasia
Fanconi anemia
Acromesomelic dysplasia
Boomerang dysplasia
Cardiomelic syndrome with
ulnar agenesis
Chondrodysplasia punctata,
tibial-metacarpal type
Craniosynostosis-ulnar aplasia
Holt–Oram syndrome
2.4. Spine
Spinal abnormalities, that may be helpful in the
(differential) diagnosis of syndromes are:
1. Abnormalities of the C1–C2 area, especially with
anomalies of the dens. The atlantodental distance is
increased in Morquio’s disease, as well as in other
storage diseases.
2. Changes in the overall morphology: kyphoscoliosis
is a nonspecific, but very frequent finding in several
congenital skeletal abnormalities, especially neuromuscular and neurologic diseases.
Table 5
Congenital diseases characterized by an abnormal number of fingers/
toes (modified from 2, with permission)
TAR syndrome
(thrombocytopenia-absent
radius syndrome)
Thalidomide embryopathy
VATER syndrome
Trisomy-18
Baller–Gerold syndrome
De la Chapelle syndrome
Absent radius and anogenital
anomalies
Facioauriculoradial dysplasia
Isolated radial deficiency
IVIC syndrome
Laurin–Sandrow syndrome
Nager acrofacial dysostosis
Polydactyly
Oligodactyly
Okihiro syndrome
Preaxial
Acrocephalosyndactyly
Blackfan–Diamond anemia
Aglossia-adactyly
Möbius syndrome
Thalidomide
embryopathy
Amniotic band
syndrome
Radial ray
syndrome (see
Table 6)
Ulnar ray syndrome
(see Table 6)
Radiodigitofacial dysplasia
Vater association
Dubowitz anemia
Holt–Oram syndrome
VATER syndrome
Acro-pectoro-vertebral dysplasia
Möbius syndrome
Mohr syndrome
Fibrodysplasia ossificans progressiva
Nager syndrome
Oro-facio-digital syndrome
Poland syndrome
Short-rib polydactyly syndrome
Trisomy-13
Werner syndrome
Postaxial
Rubinstein–Taybi syndrome
Asphyxiating thoracic dystrophy
Biemond syndrome
Goltz syndrome
Grieg syndrome
Heriditary hydrometrocolpos
(McKusick–Kaufman syndrome)
Mohr syndrome
Short-rib polydactyly syndrome
Smith–Lemli–Opitz syndrome
Weyer syndrome
Diseases in italic: most common.
WT limb-blood syndrome
Thalidomide embryopathy
Treacher Collins syndrome
Roberts syndrome
De la Chapelle syndrome
Distal osteosclerosis
Hereditary multiple exostoses
Familial ulnar aplasia and
lobster claw syndrome
Femur-fibula-ulna syndrome
Fibuloulnar aplasia :hypoplasia
and renal dysplasia
Grebe chondrodysplasia
Ives–Houston syndrome
Klippel–Feil syndrome-absent
ulna
Mesomelic dysplasia, different
types
Metaphyseal-sella turcica
dysplasia
Osebold–Remondini dysplasia
Postaxial acrofacial dysostosis
syndrome
Roberts syndrome
Spondyloperipheral dysplasia
Ulnar-mammary syndrome
Cornelia de Lange syndrome
Nievergelt dysplasia
Pfeiffer ulnofibular dysplasias
Wegner syndrome
Weyers oligodactyly
3. Clefting abnormalities (Fig. 8a).
4. Shape of the vertebral bodies: frequently encountered abnormal shapes consist of flat vertebrae
(platyspondyly; Table 10), cuboid vertebrae, round
Table 7
Congenital causes of acro-osteolysis
Acro-osteolysis
Idiopathic acro-osteolysis
Progeria
Pycnodysostosis
Osteopetrosis
Ehlers–Danlos syndrome
Pseudoxanthoma elasticum
Rothmund syndrome
Congenital insensitivity to pain
Epidermolysis bullosa
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177
or bullet-shape (Fig. 8b), beaked shape and tall
(tower-) vertebrae and hemivertebrae. Tower vertebrae are seen in trisomy-21. Beaked vertebrae are
seen in neuromuscular diseases, storage diseases,
achondroplasia and neurofibromatosis.
5. Scalopping of the posterior wall of the vertebrae
(Table 10 and Fig. 8c and d).
6. Narrowing of the spinal canal, with decrease of the
interpedicular distance towards the sacrum (Fig.
8e–g).
Table 8
Abnormal fusion (modified from 2, with permission)
Syndactyly
Symphalangism
Carpal (tarsal)
fusion
Acrocephalosyndactyly
Cornelia de Lange
syndrome
Fanconi anemia
Isolated
Acrocephalosynda
ctyly syndromes
Diastrophic
dwarfism
Isolated
brachydactyly
Popliteal
pterygium
syndrome
Isolated
Ellis–6an Cre6eld
syndrome
Holt–Oram
syndrome
Acrocephalosyndact
yly
Arthrogryposis
congenita
Holt–Oram syndrome
TAR syndrome
Trisomy-13
Trisomy-18
Syndromes with
polydactyly
Isolated
Aarskog syndrome
Aglossia–adactyly
syndrome
Bloom syndrome
Carpenter syndrome
Punctate epiphyseal
dysplasia (Conradi
syndrome)
Goltz syndrome
Laurence–Moon–Biedl
syndrome
Möbius syndrome
Nager syndrome
Mesomelic dwarfism
Otopalatodigital syndrome
Popliteal pterygium
syndrome
Robinov–Silvermann
syndrome
Rothmund–Thomson
syndrome
Rubinstein–Taybi
syndrome
Smith–Lemi–Opitz
syndrome
Tricho–rhino–phalangeal
syndrome
Diseases in italic: most common.
Turner syndrome
Dyschondrosteosis
Diastrophic
dwarfism
Hand–foot–uterus
syndrome
Kniest syndrome
Nievergelt
mesomelic
dwarfism
Otopalato-digital
syndrome
Frontometaphyseal
dysplasia
Stickler syndrome
Fig. 6. Hand abnormalities: fusion of individual bones. (a) Syndactyly: complex bony fusion between adjacent fingers. (b) Symphalangism: fusion between two phalanges within the same ray.
3. Analysis of additional criteria
3.1. Skull abnormalities
The following characteristics regarding the skull
bones may narrow the differential diagnosis of various
syndromes:
1. The presence of macro- or microcephaly.
2. An abnormal shape of the calvaria, premature closure of sutures, the presence of impressiones digitiformes can be indicative for craniosynostosis (Fig.
9a).
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Fig. 7. Abnormalities of the pelvis. (a) Type A pelvis in achondroplasia: the iliac wings are short and squared off. (b) Type B pelvis in Morquio
syndrome: there is a narrow waist of the iliac wings. (c) Acetabular and iliac angles and indices are useful in the assessment of chromosomal
abnormalities. The acetabular angle is the angle between the line intersecting the Y-cartilage and the line tangential to the acetabular roof. The
iliac angle is the angle between the horizontal line intersecting the Y-cartilage and the line tangential to the lateral border of the ilium. The iliac
index is the sum of the acetabular angle and the iliac angle. An index below 60° is very suggestive of an underlying chromosomal abnormality.
Fig. 8.
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179
Fig. 8. Spinal abnormalities. (a) Abnormal clefts. Coronal clefts in the bodies of L2 and L4 are seen on this lateral radiograph of the spine. (b)
Bullet shape of L1 and beaked shape of L2 and L3 in a patient with Hurler syndrome. (c – d) Scalopping of the posterior wall of the vertebrae
in Marfan syndrome, as seen on a lateral radiograph (c). The scalopping is caused by liquor pulsations in arachnoidocoeles, causing chronic
pressure erosions on the posterior wall of the vertebral bodies. The enlargement of the dural sac is well appreciated on the sagittal T1-weighted
MR image, in another Marfan patient (d). (e –g) Narrowing of the spinal canal in achondroplasia. On a lateral radiograph of the spine, the
shortness of the pedicles is well appreciated (e). On an AP view, there is gradual decrease of the interpedicular distance towards the sacrum (f).
The narrowing of the spinal canal, especially in transverse direction, is best evaluated on a CT-scan (g). Note also the scalopping of the posterior
wall on the lateral radiograph, and the characteristic pelvis abnormalities (type A pelvis).
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Fig. 9. Skull abnormalities. (a) Premature closure of the coronal suture in a patient with a craniocephalosyndactyly syndrome, resulting in
brachycephaly. Note also the presence of an increased number of impressiones digitiformes in the frontal and occipital bone. (b) Frontal bossing
in a patient with Sotos syndrome. (c) Persistent foramina parietalia in a DEFECT 11 syndrome. (d – e) Hypoplasia of the sphenoid wing in a
neurofibromatosis, type 1 patient. Note enlargement of the left orbita on the frontal radiograph with hypoplasia of the greater wing of the
sphenoid bone (d). The hypoplasia is even better appreciated on a CT scan of the orbit (e).
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181
Fig. 10. Miscellaneous abnormalities. (a) Frontal radiograph of the knee joint, demonstrating dislocation of the knee joint in a patient with
arthrogryposis multiplex congenita. (b) Frontal radiograph of the pelvis and lower limbs. Demineralization of the skeleton associated with multiple
fractures, resulting in an ‘accordeon-like’ shortening of the long bones in a patient with lethal osteogenesis imperfecta. (c) AP radiograph of the
shoulder in a patient with Maffucci disease. Multiple enchondromas in the proximal humerus and acromion, associated with soft tissue phlebolits,
indicating the presence of haemangiomas. Note also bowing of the proximal humeral diaphysis. (d) Lateral radiographs of the knee joints.
Absence of the patellae in a patient with nail-patella syndrome. (e) Fibrodysplasia ossificans progressiva. Multiple band-like calcifications are seen
within the soft tissues of the chest wall. (f) Frontal radiographs of the shoulders. Absence of the lateral part of the clavicles in cleidocranial
dysplasia.
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Fig. 10. (Continued)
Table 9
Congenital diseases characterized by an abnormal shape of the pelvis
(modified from 2, with permission)
Type A
Type B
Achondroplasia
Achondrogenesis
Trisomy-21
Mucopolysaccaridoses,
except Morquio
Mucolipidoses
Other storage diseases
Cleidocranial dysostosis
Cockayne syndrome
Acrocephalosyndactyly
Aminopterin-induced
syndrome
Arthrogryposis
Cornelia de Lange
syndrome
Hypophosphatasia
Popliteal pterygium
syndrome
Osteo-onychodysplasia
Prune–belly syndrome
Rubinstein–Taybi
syndrome
Bladder extrophy
Sacral agenesis
Trisomy-13, -18
Metaphyseal dysostoses
Osteogenesis imperfecta
Weissenbacher–
Zweymüller syndrome
Larsen syndrome
Melnick–Needles
syndrome
Asphyxiating thoracic dystrophy
Ellis–van Creveld syndrome
Short rib-polydactyly syndromes
Metatropic dwarfism
Kniest syndrome
Spondyloepipyseal dysplasia
congenita
Punctate epiphyseal dysplasia:
rhizomelic form
Thanatophoric dwarfism
Morquio disease
Severe metaphyseal dysostoses
Dyggve–Melchior–Clausen syndrome
Table 10
Spinal abnormalities (modified from 2, with permission)
Platyspondyly
Scalopping posterior wall
Osteogenesis imperfecta
Spondyloepiphyseal dysplasia
Thanatophoric dwarfism
Morquio disease
Achondrogenesis
Kniest syndrome
Dyggve–Melchior–Clausen syndrome
Patterson–Lowry rhizomelic dysplasias
Neurofibromatosis
Achondroplasia
Other chondrodystrophies
Storage diseases
Ehlers–Danlos syndrome
Marfan syndrome
3. Contour anomalies and/or associated skull defects,
like cystic hygroma, encephalocoele, and frontal
bossing (Fig. 9b and c).
4. Abnormal shape of the individual skull bones: e.g.
abnormal shape of sella turcica.
5. Absence/hypoplasia of individual bones: e.g. late
ossification of nasal bones in trisomy 21; absence
of the sphenoid wing in neurofibromatosis type 1
(Fig. 9d and e.).
3.2. Abnormalities of the feet and the other flat bones
The changes seen in the hands are very similar to the
findings seen in the feet, but hand abnormalities are
usually more pronounced.
F.M. Vanhoenacker et al. / European Journal of Radiology 40 (2001) 168–183
3.3. Miscellaneous findings
The following features may further allow a more
accurate radiological diagnosis:
1. Abnormal configuration of the joints, with either a
congenital dislocation or synostosis of different
joints (Fig. 10a).
2. Abnormalities in mineralisation, either sclerosis or
demineralization (Fig. 10b).
3. Bowing or twisting of bones.
4. The presence of exostoses in Hereditary Multiple
Exostosis syndrome or iliac horns in the nailpatella syndrome (Fig. 10c).
5. The presence of associated bone tumors, like enchondromes in Ollier disease and soft-tissue tumors in Mafucci disease (Fig. 10c).
6. The absence of bones: e.g. the absence of the
radius in the so-called radial ray syndrome (Table
6); the absence of the patella in the nail-patella
syndrome (Fig. 10d).
7. The presence of a congenital pseudarthrosis.
8. The presence of calcifications in the cartilage, epiphyses, ligaments and aponeurosis (Fig. 10c).
9. Abnormalities in the shape of the clavicula and
scapula (Fig. 10f).
10. Abnormal number, shape, and length of ribs.
11. An abnormal bone age.
4. Conclusion
A systematic analysis of the different bones, will
allow to define and localize the abnormalities precisely.
This analytic approach will serve as the first step in the
identification of syndromes and their differential diagnosis. The second step is the integration of the abnormalities in different skeletal elements with other
associated abnormalities in other organ systems. Indeed, symptoms in bone dysplasias are only rarely
restricted to the skeletal system. In the majority of
183
cases, syndromic associations in organ systems, like the
skin, heart, abdominal viscera, or central nervous system are depicted. Each individual syndrome usually
consists of a combination of several abnormalities. In
this integration process, the use of a number of currently available textbooks [2,6–12], lists of gamuts [10–
14] and internet databanks can be of particular help.
References
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