Pediatr Radiol (2010) 40:747–761
DOI 10.1007/s00247-009-1520-2
PICTORIAL ESSAY
Twenty classic hand radiographs that lead to diagnosis
Govind B. Chavhan & Elka Miller & Erika H. Mann &
Stephen F. Miller
Received: 16 September 2009 / Revised: 23 November 2009 / Accepted: 18 December 2009 / Published online: 4 February 2010
# Springer-Verlag 2010
Abstract Most of the common skeletal dysplasias have
some manifestation in the hand. Many have characteristic
findings in the hand that lead to the diagnosis. Hand bones
are also affected in many systemic hematologic and
metabolic conditions. The diagnosis can be clinched on a
single hand radiograph if characteristic findings are present.
This pictorial essay illustrates characteristic findings of 20
common conditions including bone dysplasias and metabolic
and hematologic abnormalities on a single hand radiograph.
It also includes some common hand abnormalities without
systemic skeletal abnormalities.
Keywords Hand radiographs . Characteristic findings .
Educational . Skeletal dysplasia . Children
G. B. Chavhan (*) : E. H. Mann : S. F. Miller
The Department of Diagnostic Imaging,
The Hospital for Sick Children,
555 University Ave,
Toronto M5G 1X8, Canada
e-mail: [email protected]
G. B. Chavhan : E. H. Mann : S. F. Miller
University of Toronto,
Toronto, Canada
E. Miller
The Department of Diagnostic Imaging,
Children’s Hospital of Eastern Ontario,
Ottawa, Canada
E. Miller
University of Ottawa,
Ottawa, Canada
Introduction
Plain films of the hands are common radiographs reported
by a pediatric radiologist. Common indications include
evaluation of the bone age and trauma. Hand bones are
frequently affected in most of the common skeletal
dysplasias as well as systemic hematologic and metabolic
conditions, with some having characteristic findings in the
hand that lead to the diagnosis. Hence, hand radiographs
are always part of the skeletal survey performed for
dysplasia. However, diagnosis can be clinched on a single
hand radiograph if characteristic findings are present.
The purpose of this pictorial review is to illustrate the
characteristic findings of various conditions in the hand that
lead to the diagnosis. Radiologists interpreting the hand
radiograph can make the diagnosis or direct appropriate
investigations for diagnosis if they are aware of the
common conditions affecting the hand. This review also
includes some conditions that are limited to the hands.
Pyknodysostosis
Pyknodysostosis is a rare hereditary sclerosing skeletal
dysplasia with autosomal-recessive inheritance. It is caused
by mutation in the gene encoding cathepsin K, a lysosomal
cysteine protease located exclusively in osteoclasts [1]; the
mutation results in reduced bone resorption. It is characterized
by short stature, frontal bossing, large anterior fontanelle with
delayed closure, delayed teeth eruption, ocular proptosis, and
dysplastic nails. Alteration in insulin-like growth factor-I
(IGF-I) is thought to be responsible for the growth impairment
seen in pyknodysostosis [1]. Growth hormone therapy has
been shown to increase IGF-I secretion and to improve the
linear growth in these children.
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Characteristic radiologic features include generalized
osteosclerosis, obtuse mandibular angles, distal osteolysis
of the clavicles, wide cranial sutures, undertubulation of
metaphyses resulting in the Erlenmeyer flask deformity and
acroosteolysis (Fig. 1). The distal phalangeal tufts are
eroded or fragmented in appearance. Hand radiograph
showing dense sclerotic bones with acroosteolysis is
diagnostic of pyknodysostosis (Table 1).
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Table 1 Pyknodysostosis versus osteopetrosis
Pyknodysostosis
1. Acroosteolysis is seen
2. Angle of the mandible is
obtuse
3. Marrow failure, cranial
nerve compression, and
hepatosplenomegaly are
not seen
Osteopetrosis
Acroosteolysis is not seen
Angle of the mandible is
not obtuse
Marrow failure, cranial
nerve compression, and
hepatosplenomegaly are
characteristic features
Osteopetrosis
Osteopetrosis is a rare sclerosing skeletal dysplasia caused
by failure of the osteoclasts to reabsorb primary spongiosa.
Various gene mutations that participate in the functioning of
osteoclasts have been linked to osteopetrosis. Clinically, it is
classified as autosomal recessive, autosomal dominant and
x-linked [2]. Autosomal-recessive and x-linked forms show
severe osteopetrosis, while the autosomal-dominant form is
variable in severity. Clinical features include macrocephaly,
pancytopenia, anemia, sepsis from hypoplastic bone marrow,
hepatosplenomegaly from extramedullary hematopoiesis,
blindness and deafness from cranial nerve compression in
the skull base, and pathological fractures from dense but
brittle bones. Hematopoietic stem cell/marrow transplantation
has been shown to benefit some patients with severe
disease [2].
Radiographic features (Fig. 2) are crucial in arrival at the
diagnosis and include diffuse sclerosis of most of the
skeleton, funnel-shaped metaphyses with alternating lucent
Fig. 1 Pyknodysostosis. a Hand radiograph shows dense sclerotic
bones with acroosteolysis (arrows). b Frontal radiograph of both femurs
shows widening of distal femoral metaphyses—the Erlenmeyer flask
deformity. c Lateral skull radiograph shows obtuse mandibular angles
bands, bone-in-bone appearance, dense skull base, sandwich
vertebrae, rugger-jersey spine and squaring of the anterior
ends of ribs. Head CT demonstrates sclerosis of the
calvarium and facial bones, with narrowing of the neural
foramina. Hand radiographs demonstrate diffuse osteosclerosis without evidence of shortening or acroosteolysis.
Mucopolysaccharidosis
The mucopolysaccharidoses (MPS) are a group of
autosomal-recessive metabolic disorders caused by deficiency
of lysosomal enzymes that break down mucopolysaccharides (glycosaminoglycans). Excess glycosaminoglycan is
deposited in various tissues, resulting in progressive
damage of various organs that leads to physical and mental
disabilities. Although rare, at least seven types of MPS have
been described. These include MPS I (Hurler/MPS IH, Scheie/
MPS IS, Hurler-Scheie/MPS IH-S), MPS II (Hunter), MPS III
(arrows) and widening of coronal sutures (arrowheads). Obtuse
mandibular angles and acroosteolysis are seen in pyknodysostosis and
differentiate it from osteopetrosis
Pediatr Radiol (2010) 40:747–761
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Fig. 2 Osteopetrosis. a Hand radiograph shows dense sclerotic bones.
b Pelvic radiograph shows bone-within-bone appearance (arrows) and
an internally fixed fracture of the right femoral neck. c Lateral skull
radiograph shows dense skull base, increased craniofacial ratio
suggestive of macrocephaly, and normal mandibular angles
(Sanfilippo), MPS IV (Morquio), MPS VI (Maroteaux-Lamy),
MPS VII (Sly) and MPS IX (hyaluronidase deficiency). The
clinical spectrum is variable, and abnormalities typically
manifest by the end of 2 years of age. Major clinical
features include short stature (except in Scheie), corneal
clouding, hydrocephalus, coarse facial features, macroglossia, hepatosplenomegaly, cardiovascular diseases
(including hypertension), noisy breathing, recurrent upper
respiratory tract infection, and skeletal deformities such as
kyphosis [3]. Developmental delay is seen except in
Morquio and Scheie types. The diagnosis of an MPS
disorder is confirmed by excessive urinary excretion of
glycosaminoglycans.
Radiological features include: J-shaped sella, large skull,
thick calvarium, hypoplasia of scapulae, short and thick
clavicles, thick ribs with narrow neck (paddle-shaped ribs),
beaking and bullet-shaped vertebrae with thoracolumbar
kyphosis, hypoplasia of dens with atlanto-axial subluxation
(especially in Morquio), irregular metaphyses, flared iliac
wings with narrow steep acetabula, coxa valga, infiltration
of meninges, hydrocephalus, prominent Virchow-Robin
spaces and tracheal narrowing (Fig. 3). Characteristic
features in the hand that lead to the diagnosis include:
short distal phalanges, wide proximal phalanges, irregular
small carpals, short metacarpals with proximal tapering,
and slanting of the distal articular surfaces of radius and
ulna toward each other (pseudo-Madelung deformity).
in the gene for fibroblast growth factor receptor 3 (FGRF3),
resulting in disturbance of endochondral bone formation,
especially manifest at the growth plate. Clinical features
include rhizomelic dwarfism with a normal trunk,
macrocephaly with frontal bossing, midfacial hypoplasia,
otitis media, bowing of legs, cervicomedullary compression,
lumbosacral nerve compression and upper airway
obstruction [5].
Radiological features (Fig. 4) include short, thick long
bones with metaphyseal flaring and cupping; short,
rectangular iliac bones with narrow sacroiliac notches
and horizontal acetabular roofs; narrowing of lumbar
interpediculate distance frequently resulting in lumbar
spinal stenosis; bullet-shaped vertebrae with thoracolumbar
kyphosis, constricted skull base with narrow foramen
magnum, short ribs with flared anterior ends, coxa vara
and genu varum (Fig. 4). Characteristic features in the hand
include the trident hand, with short, broad, splayed and
cone-shaped phalanges and shortened metacarpals.
Achondroplasia
Achondroplasia is the most common skeletal dysplasia and
the most common cause of short-limbed dwarfism in humans
[4]. It is an autosomal-dominant disorder caused by mutation
Chondrodysplasia punctata, brachytelephalangic
subtype (CDP-BT)
Chondrodysplasia punctata is a heterogeneous group of
rare congenital disorders caused by peroxisomal dysfunction. This phenotype is characterized by erratic cartilage
calcification within apophyses and epiphyses, carpal and
tarsal bones, vertebrae and cartilages of the trachea and
bronchi. Various types of chondrodysplasia punctata
include autosomal-dominant (non-rhizomelic, non-lethal,
Conradi-Hunermann syndrome), autosomal-recessive
(rhizomelic, lethal type) and rare x-linked dominant and
recessive forms. Clinical features of the severe phenotypes
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Fig. 3 Mucopolysaccharidosis (MPS-IH). a Hand radiograph shows
characteristic findings of MPS-IH, with short metacarpals demonstrating
proximal tapering (arrows), slanting of radial and ulnar metaphyses
toward each other, and short distal and wide proximal phalanges.
b Lateral spine radiograph shows hypoplastic L2 vertebra with
anteroinferior beaking (arrow) and gibbus deformity. c Pelvis radiograph shows flared iliac wings with steep and shallow acetabular roofs
(arrows). There is also mild coxa valga deformity bilaterally
include ichthyotic and psoriasiform skin lesions, cataracts,
craniofacial dysmorphism including nasal hypoplasia, joint
contractures, cardiac malformation and mental retardation.
However, patients with the brachytelephalangic subtype
(x-linked recessive) present with only respiratory insufficiency
caused by narrow nasal passages and tracheal cartilage
calcification. They also have characteristic shortening of the
distal phalanges (brachytelephalangy).
Radiological features in the CDP spectrum include
stippled epiphyses, punctate appearance of carpal and tarsal
bones, stippled patellae and vertebral pedicles, stippling in
the trachea, larynx, and bronchi, short long bones,
Fig. 4 Achondroplasia. a Hand radiograph shows approximation of
second and third digits and also the fourth and fifth digits forming the
trident hand appearance. Tubular bones are short and show coned
phalanges. There is also flaring of radial and ulnar metaphyses.
b Pelvis radiograph shows characteristic progressive narrowing of
interpediculate distance craniocaudally (lines). Iliac wings are squared
with horizontal acetabular roofs. Sciatic notches are narrowed
bilaterally (arrows). Femurs are short and broad, with widening and
cupping of metaphyses. c Lateral spine radiograph shows bulletshaped vertebrae (arrowheads) with kyphosis in thoracolumbar region
Pediatr Radiol (2010) 40:747–761
kyphoscoliosis, coronal clefts in vertebrae on the lateral view,
and atlanto-axial instability (Fig. 5). Findings in the hand
might include brachytelephalangy and variable shortening of
other phalanges and metacarpals. Of note, characteristic
punctate calcifications disappear within the first year of life;
hence early diagnosis is important [6]. Hand radiographs in
patients with CDP-BT demonstrate punctate calcification of
the distal phalangeal epiphyses, with an inverted-triangle
appearance of the shortened distal phalanges. These patients
also demonstrate distinctive calcification of the triradiate
cartilages of the pelvis as well as the greater trochanters. The
findings in CDP-BT are quite similar to those seen in
Warfarin embryopathy. As the diagnosis of a specific
subtype of CDP often hinges on radiographic findings, a
complete skeletal survey is indicated. Abnormal cartilaginous stippling is associated with number of other disorders
including inborn errors of metabolism, embryopathy and
chromosomal abnormalities [7].
Ollier syndrome (multiple enchondromas)
Ollier syndrome refers to the presence of multiple
enchondromas (enchondromatosis). This rare, sporadic,
non-hereditary condition represents a benign neoplasm
within the intramedullary bone that consists primarily of
lobules of hyaline cartilage. These lesions are thought to
arise from physeal rests of cartilage that become trapped
in the metaphysis of growing bones [8]. Children present
with fractures, palpable masses and limb deformity. Most
patients have bilateral involvement but the disorder is
Fig. 5 Chondrodysplasia punctata, brachytelephalangic subtype.
a Hand radiograph shows short triangular-shaped distal phalanges
suggestive of brachytelephalangy (arrows). The fifth middle phalanx
is small with clinodactyly. The metacarpals are relatively small.
b Lateral radiograph of the chest shows diffuse punctuate foci of
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often asymmetric. Tubular long bones are most commonly
involved, but the bones of hands, feet and hips can also be
affected. The involved tubular bones are frequently short,
expanded and irregularly deformed.
Radiographs demonstrate multiple well-demarcated
lucent central lesions in the metaphysis or diaphysis of
the involved tubular bones (Fig. 6). Rarely, extension to
the epiphysis can be seen. Short tubular long bones of the
hands and feet are most frequently involved. Calcified
matrix with a typical “arcs and rings” appearance confirms
the diagnosis of a chondroid lesion. With increasing age,
the cartilage might calcify in the typical snowflake pattern.
Cortical expansion or thinning might be present and quite
dramatic, but cortical destruction is rare unless a fracture is
present.
Complications of enchondromatosis include pathological
fracture and malignant transformation (5–30%) into sarcomas,
mainly chondrosarcomas. Development of non-skeletal
malignant lesions including gliomas and ovarian carcinoma
has been reported [9–11]. Enchondromatosis is sometimes
associated with cutaneous hemangiomas and is then referred
to as Maffucci syndrome, also with a risk of malignant
transformation.
McCune-Albright syndrome (polyostotic fibrous
dysplasia)
McCune-Albright syndrome (MAS) is defined as a triad of
fibrous dysplasia, café-au-lait skin spots, and precocious
puberty. It is a rare disease with estimated prevalence of 1/
calcification within the cartilaginous rings of the anterior wall of the
trachea and in the posterior elements of vertebrae (arrows). c Pelvic
radiograph shows calcifications in the triradiate cartilage, within the
greater trochanteric apophysis and in the sacrum (arrows). This is
chondrodysplasia punctata with brachytelephalangy
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Fig. 6 Ollier disease. Hand radiograph shows multiple lytic expansile
lesions in the tubular bones of the hand and in the distal ulna (arrow)
suggestive of enchondromas. There is resultant deformity of the
involved bones. The presence of hemangiomas with multiple
enchondromas is called Maffucci syndrome
100,000 to 1/1,000,000. Other hyperfunctioning endocrinopathies such as hyperthyroidism, growth hormone excess,
Cushing syndrome, and renal phosphate wasting can be seen
[12]. The disease results from somatic mutations of the
G protein gene, which induces constitutive activation of
adenylate cyclase, resulting in increased hormone production.
The extent of the disease is determined by the proliferation,
migration and survival of the mutated cell during embryonic
development [13, 14].
Plain radiographs are often sufficient to make the
diagnosis. Radiological features in the hands include focal
expansile intramedullary lesions with endosteal scalloping.
The matrix of the intramedullary lesion demonstrates a ground
glass appearance (Fig. 7). These findings of polyostotic
fibrous dysplasia are sometimes associated with enlargement
of the fingers involved causing focal gigantism. Patients with
McCune-Albright syndrome often demonstrate advanced
skeletal maturation even in the absence of demonstrable
intraosseous lesions in the hand. Differential diagnoses
include focal gigantism from macrodystrophia lipomatosa,
neurofibromatosis, and melorrheostosis. Malignant transformation of FD lesions probably occurs in less than 1% of
patients with MAS.
Macrodystrophia lipomatosa
Macrodystrophia lipomatosa (ML) is a rare non-hereditary
developmental form of localized gigantism. It is characterized
Fig. 7 McCune-Albright syndrome. Precocious puberty and café-au-lait
spots in a 7-year-old girl. Hand radiograph shows expansile lesion
demonstrating ground-glass matrix and endosteal scalloping involving
the metacarpals and phalanges of the first and second digits of the left
hand (arrows). The bones of the third through fifth ray are affected to a
lesser degree. These findings are suggestive of polyostotic fibrous
dysplasia
by overgrowth of mesenchymal elements with disproportionate increase in fibroadipose tissue involving fingers
and toes. The distribution of this congenital abnormality
involves the median nerves in the upper extremity and
plantar nerves in the lower extremity [15].
This idiopathic localized gigantism is recognized at
birth. The rate of growth varies among individuals and
ceases by puberty. It most commonly involves a single
digit, although enlargement of multiple digits has been
reported. Radiologically, it is characterized by involvement
of both soft tissues and bones (Fig. 8). The first to third rays
are commonly involved. The soft-tissue overgrowth is more
prominent at the distal and volar aspects of the finger. The
phalanx is broad and long and in late childhood secondary
degenerative joint changes can be present. Clinodactyly is
always present, syndactyly and polydactyly can also be
seen. MRI appearance of fatty tissue with proportional
enlargement of other mesenchymal tissue is diagnostic of
ML [16].
The radiographic differential diagnoses include neurofibromatosis (NF), Klippel-Trénaunay-Weber syndrome and
proteus syndrome. In neurofibromatosis, the involvement of
the digits tends to be multiple and bilateral with the distal
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Fig. 8 Macrodystrophia lipomatosa. Hand radiograph shows
enlargement of first and second digits involving bones and soft
tissues. There is lateral curving of the second digit. The findings are
characteristic of macrodystrophia lipomatosa
phalanx not severely affected; premature fusion of growth
plates can be seen in NF but is rare in ML since the growth
ceases with puberty. With the advantages of tissue
characterization in MR images, the differential diagnoses
are limited to lesions containing fat such as fibrolipomatous
hamartoma of the median nerve, a rare condition that can be
present with macrodactyly but the fat signal is usually present
within the nerve sheath only [17]. Some would combine ML
and fibrolipomatous hamartoma under the term nerve
territory-oriented macrodactyly. Other pathologies with overgrowth can be differentiated because of obvious cutaneous
vascular abnormalities such as vascular malformations or
Klippel-Trénaunay-Weber syndrome. Treatment often requires
surgical resection to decrease deformity; however, this
preferentially should be performed only after puberty [18].
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somatic mosaicism of a dominant gene that has not been
identified [19].
Skeletal findings are progressive and include abnormalities
such as macrodactyly, scoliosis, asymmetric overgrowth, and
limb length discrepancy. In the hand, asymmetric overgrowth
and macrodactyly are the most common features (Fig. 9).
Clinodactyly, syndactyly or polydactyly in an asymmetric
and irregular pattern have been described. Asymmetric
involvement of the hands, including the ossification centers,
might cause abnormal or disharmonic bone age [20].
Exostosis-like protuberances of the short and long bones in
conjunction with ossification of the periarticular soft tissues
on the volar aspect of the joint can contribute to limitation of
movement [21].
The cerebroid thickening of palms and soles and the lineal
skin lesions are characteristic of proteus syndrome and help to
differentiate this entity from macrodystrophia lipomatosa. The
differential diagnosis is broad because macrodactyly, limb
hypertrophy and asymmetry are all features of other entities
such as hemangiomatosis, lymphangiomatosis, arterio-venous
fistulas, neurofibromatosis, Klippel-Trénaunay-Weber syndrome, Ollier disease, and Maffucci syndrome.
Marfan syndrome
Marfan syndrome is an uncommon inherited multisystemic
connective-tissue disease that is caused by a mutation of the
Proteus syndrome
Proteus syndrome is a rare sporadic disorder with variable
manifestations. The most common manifestation is overgrowth
and hyperplasia of multiple tissues, including epidermis and
dermal connective tissue, adipose tissue, vascular connective
tissue and bone. The disease is not usually apparent at birth but
develops rapidly in childhood. Common presentations include
macrodactyly, vertebral abnormalities, asymmetric limb overgrowth and length discrepancy, hyperostosis, abnormal and
asymmetric fat distribution, asymmetric muscle development, connective-tissue nevi, and vascular malformations.
This hamartomatous disorder is thought to arise from
Fig. 9 Proteus syndrome. Hand radiograph shows asymmetric random
soft-tissue and bony changes. There is loss of normal configuration,
irregularity, overgrowth and deformed phalanges and metacarpals. There
is overgrowth of the fourth and fifth fingers and shortening of the second
and third fingers. There is associated soft-tissue hypertrophy in the
overgrown fingers
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fibrillin-1 gene. This mutation affects the suspensory
ligament of lens, elastin in the aorta and other connective
tissues. A wide range of clinical manifestations characterize the syndrome. Cardiac diseases such as dissecting
aneurysm of the ascending aorta, and mitral or aortic
insufficiency are substantial contributors to mortality.
Musculoskeletal manifestations include scoliosis, pectus
excavatum and carinatum, and acetabular protrusion
(Fig. 10). Other manifestations include dural ectasia
causing posterior vertebral body scalloping, and in some
patients variable pulmonary and ocular involvement.
The hands demonstrate arachnodactyly (long spider-like
fingers and/or toes, disproportionately long in relation to
the hands and feet) (Fig. 10). A metacarpal index greater
than 8.4 is suggestive of arachnodactyly and if present,
evaluation for other signs of Marfan syndrome is
indicated. This index is calculated by dividing the total
length (in millimeters) of the second, third, fourth, and
fifth metacarpals by the total width of the metacarpals at
their exact midpoints [22]. The metacarpal index has low
sensitivity and specificity and thus needs to be correlated
with other clinical features.
Congenital contractural arachnodactyly (CCA), or Beals
syndrome, is an autosomal-dominant connective-tissue
disorder that shares phenotypical features with Marfan
syndrome. The two syndromes are clinically related but
CCA is caused by a mutation in the fibrillin-2 gene mapped
to 5q23. CCA patients share skeletal features with Marfan
syndrome (tall and slender, arachnodactyly, scoliosis), but
lack the ocular and cardiovascular complications associated
with Marfan syndrome [23]. Loeys-Dietz syndrome, caused
Fig. 10 Marfan syndrome. a Hand radiograph shows long slender
fingers suggestive of arachnodactyly. Metacarpal index was greater
than 10. b Lateral chest radiograph shows kyphoscoliosis of the spine
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by mutations in either the TGFBR-1 or TGFBR-2 genes, is
also characterized by arachnodactyly. However, these patients
demonstrate numerous and dramatic arterial aneurysms and
cervical instability [24].
Rickets
Rickets is caused by decreased mineralization at the growth
plate resulting in growth retardation and delayed skeletal
maturation. Defective mineralization of trabecular bone is
called osteomalacia. Rickets can only be seen in children
before closure of growth plates, while osteomalacia can
occur at any age (associated with rickets in children).
Defective mineralization of the osteoid can be caused by
vitamin D deficiency from dietary intake or malabsorption,
abnormal metabolism of vitamin D from liver or kidney
disease and abnormal metabolism or excretion of inorganic
phosphates such as that seen in x-linked hypophosphatemic
rickets and Fanconi anemia [25]. Clinical features include
craniotabes, frontal bossing, delayed tooth eruption, rachitic
rosary, scoliosis, bowing of extremities, ligament laxity, and
hypotonia.
Radiological features include widening, cupping and
fraying of metaphyses as a result of an increased number of
disorganized cells in the hypertrophic zone, craniotabes,
bowing of long bones, genu valgum, scoliosis, triradiate
pelvis, rachitic rosary and periosteal reaction. Knees, wrists
and ankles are affected predominantly (Fig. 11). Hand
radiographs are usually diagnostic of rickets and show
widening, cupping, and fraying of distal metaphyses of
and pectus excavatum (arrows). c Coronal balanced SSFP MR image
shows dilatation of the aortic root (arrows)
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Fig. 11 Rickets. a Hand radiograph shows widening, cupping, and
fraying of distal metaphyses of the ulna and radius. There is reduction
in bone density with prominence of trabeculae and thinning of cortex.
Findings are typical for rickets. b Lateral radiograph of the chest
shows widening of anterior ends of ribs (arrows) in keeping with
rachitic rosary. c Follow-up radiograph 3 weeks after initiation of
vitamin D therapy shows dense metaphyseal band of provisional zone
of calcification (arrows), suggestive of healing rickets
radius and ulna, coarse trabeculae, and indistinct cortical
margins. Radiographs are also useful to detect treatment
response in dietary rickets and demonstrate increased
density in the zone of provisional calcification as early as
2 to 3 weeks following initiation of treatment (Fig. 11).
associated with end organ resistance to hormones it is
called pseudopseudohypoparathyroidism. Serum parathormone, calcium and phosphate levels are normal in
pseudopseudohypoparathyroidism.
Brachydactyly is the most reliable sign for the diagnosis of
AHO, with shortening of the distal phalanx of the thumb the
most common abnormality (75%) [26]. A variable shortening
of the metacarpals is seen, with the fourth (65%) and fifth
(43%) being most commonly affected. Shortening of the
second through fifth distal phalanges is common and
variable. Asymmetry is seen in up to 42% of cases [27].
Skeletal abnormalities of AHO might not be apparent until
5 years of age, although they present in infancy occasionally
[27]. Differential possibilities include acroosteolysis.
Pseudohypoparathyroidism/
pseudopseudohypoparathyroidism
Hypoparathyroidism is a reduced level of parathyroid
hormone from any cause with resultant hypocalcemia and
high phosphorus. In chronic hypoparathyroidism diffuse
increased bone density and soft-tissue and basal ganglion
calcifications can be seen. In pseudohypoparathyroidism,
the parathyroid hormone level is normal or high; however,
there is end organ resistance to the hormone. Albright
hereditary osteodystrophy (AHO) is a rare constellation of
developmental defects with autosomal-dominant inheritance characterized by short stature, obesity, round face,
brachydactyly, subcutaneous ossification and mild to
moderate developmental delay (Fig. 12). AHO is caused
by germline mutations of the GNAS1 gene that encodes for
stimulatory G protein responsible for stimulating adenylyl
cyclase [26]. High serum levels of parathormone and
phosphate, and a low level of calcium are seen. End organ
resistance to other hormones such as TSH, gonadotropin,
and glucagons might be seen [26]. When AHO is not
Renal osteodystrophy
Renal osteodystrophy (ROD) is a common multifactorial
disorder of bone remodeling seen in chronic renal disease. It
consists of a heterogeneous group of disorders from high
turnover bone to low turnover bone states [28]. High turnover
bone disease is characterized by increased osteoblastic and
osteoclastic activity with peritrabecular fibrosis. It represents
the manifestation of secondary hyperparathyroidism [29] and
develops as a result of hypocalcemia, hyperphosphatemia,
and impaired synthesis of renal vitamin D. Radiologic
findings include subperiosteal and subchondral bone resorp-
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Fig. 12 Pseudopseudohypoparathyroidism (PPHPT). a Hand
radiograph shows shortening
of the right third and fourth
metacarpals in a case of PPHPT.
b Axial CT image shows facial
soft-tissue calcification on the
right. This child had short
stature, obesity, round face,
and normal levels of parathormone, calcium and phosphorus,
characteristic of PPHPT. In
pseudohypoparathyroidism,
there is end organ resistance
to parathormone, with increased
levels of parathormone and
phosphorus and reduced
levels of calcium
tion, acroosteolysis, periosteal reaction and brown tumors.
Cardiovascular and soft-tissue calcification can also be seen.
Low turnover bone disease is characterized by decrease in
osteoblastic and osteoclastic activity with increase in osteoid
formation, and includes osteomalcia/rickets and osteopenia.
A combination of low and high turnover bone findings is
usually seen. Efficient treatment limits the prevalence of
secondary HPT and osteomalacia/rickets and the manifestations are less frequently seen now.
A characteristic finding on the hand radiograph includes
cortical resorption along the radial aspect of the middle
phalanges of the second and third digits. Additional
findings include prominence of trabeculae, irregularity of
the metaphyseal margins of the radius and ulna, and
periosteal reaction (Fig. 13).
Thalassemia major usually presents with anemia when
fetal hemoglobin is reduced at about 6 months of age.
Cardiomegaly is seen because of a high flow state from
the anemia.
Radiographic features in the skeleton include marked
osteopenia, medullary expansion, cortical thinning, frontal
bossing, hair-on-end appearance of the frontal and parietal
bones, prominence of nutrient foramina, early physeal fusion
Thalassemia
Thalassemia is a group of hereditary disorders caused by
genetic deficiency in the synthesis of beta-globin chains of
hemoglobin. Globin chains are reduced in quantity but are
structurally normal in thalassemia. Alpha and beta thalassemia are caused by mutations in the alpha-globin genes and
beta-globin genes, respectively. In the heterozygous state
(beta thalassemia trait/thalassemia minor), mild-to-moderate
microcytic anemia is seen. The homozygous state causes
thalassemia major—a severe transfusion-dependent anemia.
Production of beta-globin is severely impaired, resulting in an
imbalance between alpha and beta chains. Excess unpaired
alpha-chains aggregate to form precipitates that cause
hemolysis. Erythroid hyperplasia causes medullary expansion
within the bones. Extramedullary hematopoiesis can be seen
in the liver, spleen, and in the paraspinal regions. Clinically,
thalassemia minor patients are usually asymptomatic carriers.
Fig. 13 Renal osteodystrophy. Hand radiograph shows prominence of
trabeculae and mild osteosclerosis. There is subperiosteal resorption
and resorption along the radial and ulnar metaphyses (arrows).
Combination of bone resorption, prominence of trabeculae, and
osteosclerosis is usually suggestive of renal osteodystrophy
Pediatr Radiol (2010) 40:747–761
giving rise to humerus varus, and increased frequency of
fractures [30]. These skeletal changes are seen less
frequently now because of effective treatment. Changes
related to chelation therapy for iron overload caused by
multiple transfusions can also be seen radiologically.
These changes are called deferoxamine-induced bone
dysplasia and include metaphyseal sclerosis and circumferential osseous defects, widening of growth plates,
sharp zone of calcification, platyspondyly and sclerosis
of costochondral junctions [31].
The hand radiograph in thalassemia shows expanded,
undertubulated, osteopenic metacarpals, phalanges with
lace-like trabeculae and thin cortex (Fig. 14).
Sickle cell disease
Sickle cell anemia is an autosomal-recessive hemoglobinopathy caused by formation of a defective hemoglobin
called hemoglobin S (Hb S). This structural abnormality of
hemoglobin is caused by a single amino acid substitution:
valine for glutamic acid at position six in the beta globin
chain [32]. Structural defects of both beta globin chains
result in sickle cell anemia, while involvement of one beta
globin chain results in sickle cell trait without anemia.
Deoxygenation of Hb S-containing red blood cell (RBC)
leads to the aggregation of abnormal hemoglobin molecules
into long chains, distorting the RBC into a rigid sickle
Fig. 14 Thalassemia. Hand radiograph shows expansion, groundglass appearance, lace-like thin trabeculae and thin cortex involving
predominantly metacarpals, in keeping with medullary expansion seen
in thalassemia
757
shape. This abnormal irreversible shape of the RBC results
in obstruction of microcirculation, ischemia, and infarction,
as well as anemia from reduced lifespan of RBCs. Clinical
and radiologic features seen are the result of thrombosis
and infarction of bones, marrow hyperplasia, infection
(osteomyelitis and septic arthritis), and extramedullary
hematopoiesis.
Bone infarcts in the diaphyses of small tubular bones
in the hands and feet occurring in infants and young
children (from 6 months to 3 years) are called sickle cell
dactylitis or hand-foot syndrome with susceptibility
caused by the presence of red marrow in these regions
[32]. Hand radiographs show soft-tissue swelling, patchy
areas of lucency, and periosteal reaction in the acute
stage. Osteomyelitis can present with similar features,
although destruction can be more intense and is usually
localized to a single bone. Chronic changes in the hand
are usually a result of aseptic necrosis and include
cortical thickening, patchy sclerosis, and growth disturbances such as phalangeal and metacarpal shortening
(due to physeal infarction), metaphyseal cupping and
fusion of intercarpal joints (Fig. 15).
Juvenile idiopathic arthritis
Juvenile idiopathic arthritis is an idiopathic disorder characterized by chronic joint inflammation occurring in children
Fig. 15 Sickle cell dactylitis. Hand radiograph shows cortical
thickening, patchy sclerosis and metaphyseal cupping involving the
proximal phalanx of the third digit. Findings are in keeping with prior
infarction
758
Pediatr Radiol (2010) 40:747–761
before age of 16 years, of at least 3 months duration, when
other causes are excluded. It is thought to be immunological in
origin. Synovial inflammation is characterized by lymphocytic
infiltration. JIA can be monoarticular, oligoarticular (four
or fewer joints involved), polyarticular (five or more
joints involved) or systemic (polyarticular, symmetric
joint involvement with systemic symptoms) at onset.
Systemic manifestations include fever, rash, leucocytosis,
lymphadenopathy, hepatosplenomegaly, pleuritis, and
uveitis. Inflamed, thickened synovium is the main
pathologic process. This inflammation leads to erosion
of articular cartilage and subchondral bone.
Radiological features include joint swelling, effusion,
periarticular osteopenia, accelerated bone maturation and
enlarged epiphyses from inflammatory hyperemia, periostitis, reduction in joint space from cartilage destruction,
articular margin erosions, joint subluxation, dislocations,
ankylosis and deformity, and growth disturbances [33].
Hand radiograph might show some or all of the above
changes (Fig. 16). Wrist joints are commonly affected,
with erosions and periarticular swelling in the acute
phase and reduction in intercarpal spaces, marked carpal
destruction and radial deviation in the chronic phase.
Small joints of the hand are also commonly and similarly
affected. Boutonniere (flexion at PIP and hyperextension
at DIP) and swan neck (vice versa) are specific
deformities seen in JIA involvement of the hand.
Fig. 16 Juvenile inflammatory arthritis. Hand radiograph shows
reduced intercarpal joint spaces and small irregular carpal bones.
There is marked osteopenia. The short tubular bones are thin and
slender. There is a boutonniere deformity (flexion at PIP and extension
at DIP) involving third to fifth digits (arrows) and periarticular
calcification in the third digit (arrowhead)
Fig. 17 Frostbite. Hand radiograph shows joint space reduction,
irregular articular surfaces and deformity involving the distal
interphalangeal (DIP) joints of the second through fifth digits. There
is sparing of the thumb. Findings are in keeping with history of
frostbite. Sparing of the thumb is a result of characteristic protective
fist formation with thumb inside during the cold exposure
Frostbite
Frostbite is the injury caused by exposure to extreme
cold. It more commonly occurs in distal tissues that are
widely exposed, such as hands, feet and the head region
[34]. It is more common in soldiers, homeless people,
alcohol intoxication, and psychiatric illness [35]. Extreme
cold exposure causes ice crystal formation, cellular
dehydration, protein denaturation, and hypoxia from
vessel constriction. Bony changes are secondary to
vascular damage. Depth of the damage can vary from
epidermal tissues alone to involvement of dermis,
muscles, bones and tendons. Hand injury can lead to
shortening of distal phalanges and some adjacent middle
phalanges. Destruction, premature physeal fusion and
fragmentation of epiphyses can cause abnormal alignment and joint deformities [36, 37]. Finger deformity and
Pediatr Radiol (2010) 40:747–761
759
Lunotriquetral coalition
Fibrous, cartilaginous or bony fusion between individual
carpal bones is called carpal coalition. Lunotriquetral coalition
is the most common, followed by capito-hamate [38, 39].
Incidence is approximately 0.11% [39] but it might be nearly
100 times higher in African Americans [39]. It usually occurs
as an isolated anomaly. However, it is sometimes associated
with syndromes and shows a familial pattern of inheritance.
The syndromes described in association with carpal coalition
include: arthrogryposis, Ellis-van Creveld syndrome, HoltOram syndrome and Turner syndrome. Minnar’s classification
of lunotriquetral coalition includes: type I—proximal fibrous
or cartilaginous coalition; type II—incomplete osseous fusion
with distal notch (Fig. 18); type III—complete osseous
fusion; type IV—complete fusion with other carpal anomalies
[39]. Lunotriquetral coalition is usually incidental and
asymptomatic, but a few fibrous coalitions are painful.
Amniotic band syndrome
Fig. 18 Lunotriquetral coalition. Hand radiograph shows fusion of
left lunate and triquetrum bones. There is a small notch on the distal
aspect of the fusion, indicating Minnar type II lunotriquetral coalition
(arrow). The child was asymptomatic and coalition was incidentally
detected during bone age assessment
Entrapment of fetal parts in fibrous amniotic bands with
resultant amputations and defects without any anatomic
arthritis can develop many years after the injury [37].
Characteristic fist formation with thumb inside can lead to
sparing of the thumb (Fig. 17) and serves as a clue to the
etiology.
Fig. 19 Amniotic band syndrome. Hand radiograph shows amputation
of multiple digits, sparing the left first and fifth digits. The amputation is
variable in extent for different digits. There is soft-tissue syndactyly
involving the left third and fourth digits (arrow). Multiple amputations
without any pattern and the distal fusion (syndactyly) are typical of
amniotic band syndrome
Fig. 20 Turner syndrome. Hand radiograph shows shortening of the
fourth metacarpal with resultant short fourth ray. The finding in this
girl with webbed neck, short stature and obesity is suggestive of
Turner syndrome. Other differential considerations for the finding of a
short fourth metacarpal include pseudohypoparathyroidism, pseudopseudohypoparathyroidism, Rett syndrome, and homocystinuria
760
pattern is called amniotic band syndrome. Rupture of the
amnion without rupture of the chorion results in amniotic
band formation [40]. Its incidence is approximately 1 in
10,000 live births [40]. Amniotic rupture early in the
pregnancy (<9 weeks) can cause multisystem anomalies
with brain and calvarial defects such as cephalocele and
anencephaly. Fifty percent of these pregnancies end in
abortion or stillbirth. Rupture later in the pregnancy can
cause multiple defects with varying degree of severity.
These defects include constriction rings around digits, arms
and legs; lymphedema distal to constriction; asymmetry in
face; cleft lip/palate; multiple joint contractures; clubfeet;
pterygium; and pseudosyndactyly. In the hands, asymmetric
amputations without any anatomic pattern are typically seen
(Fig. 19). If syndactyly is seen, fingers are fused distally.
Constricting bands can be seen proximally, with distal
soft-tissue swelling secondary to lymphedema. In complete
amputation of fingers caused by an amniotic band there are
no nails. However, in constriction by amniotic band without
amputation or in a digital reduction abnormality fingers
might be stunted with dystrophic nails.
Turner syndrome
Turner syndrome is the most common sex-chromosome
abnormality in girls, affecting approximately 1 in 1,500–
2,500 live-born girls [41]. It is caused by complete or partial
X monosomy in some or all cells, with karyotype of 45XO
[42]. Clinical features include short stature, webbed neck,
high palate, nail dysplasia, lymphedema, coarctation of aorta
and infertility from streak gonads. Hand radiographs show
short fourth metacarpals, bulbous distal phalangeal tufts and
a more acute carpal angle (Fig. 20). Normally a tangential
line joining the distal ends of fourth and fifth metacarpals
should not intercept the distal end of the third metacarpal. If
it does, it is suggestive of a short fourth metacarpal. Short
fourth metacarpals can also be seen in pseudohypoparathyroidism, pseudopseudohypoparathyroidism, Rett syndrome,
sickle cell disease and homocystinuria.
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