BONE AND JOINT CONGENITAL DISORDERS
WRIST DISORDERS
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Congenital anomalies affect 1% to 2%
of newborns
approximately 10% of those children
have upper-extremity abnormalities
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BONE AND JOINT CONGENITAL
DISORDERS
Osteochondral dysplasias
Metabolic disorders
Syndroms
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Osteochondral dysplasias
Achondroplasia
Hypochondroplasia
Diastrophic dysplasia
Kniest dysplasia
Spondyloepiphyseal dysplasia
Metaphyseal chondrodysplasia
Dyschondrosteosis
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achondroplasia
AD pre. =1.3/100000
80% random new mutation (paternal age)
Collagen type II chromosome 12
Enchondral ossification
Rhizomelic shortness
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achondroplasia
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achondroplasia
Limitation in elbow extension
Genu varum
Ankle valgus
Waddling gait
Hip flexion contracture
Motor retardation
Kyphosis in spine
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achondroplasia
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achondroplasia
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achondroplasia
Mortality rate is increased because of:
Sudden death
CNS
CV
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Metabolic disorders
Mineral phase
Rickets
Organic phase
Oi
Osteopetrosis
Conective tissue syndroms
Endocrinopathies
Hypothyroidism
Gonadal abnormality
Fibrous dysplasia
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Osteogenesis imperfecta
Collagen I
Fragility of bone 21.8/100000
Short stature , scoliosis
Defective dentinogenesis
Middle ear deafness
Laxity of lig.
Blue sclerae & tympanic membrane
Prenatal diagnosis by US except In mild forms( I,IV)
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Increase in woven bone does not mature to
lamellar bone
Osteocyte are increased
Trabeculae are thin and poorly arranged
Haversian canal does not developed
Bone mineral density is decreased on DEXA
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Osteogenesis imperfecta
OI congenita
OI tarda
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SHORT STATURE
BOWING OF LIMBS
SCOLIOSIS
BLUE SCLERA I,II
DENTINOGENESIS IMPERFECTA
TREFOIL SHAPED FACE
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Coxa vara
Protrusio acetabuli
Wormian bones
Biconcave vertebra
Long bones are thin and osteopenic
Concertina appearance in femur
Widening of metaphysis , popcorn epiphysis
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Syndroms
Neurofibromatosis
Arthrogryposis
Down syndrome
Turner syndrome
Noonan syndrome
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Neurofibromatosis (von Recklinghausen's
disease) is the most prevalent skeletal
dysplasia transmitted by a single gene. It
is inherited in an autosomal dominant
pattern with variable expression, although
the disease is believed to occur due to a
new mutation in 50% of the affected
individuals. The estimated prevalence is 1
per 1000 live births.
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Neurofibromatosis type I (NF-I) is the more
common form and is characterized by peripheral
neurofibromas, skeletal involvement, and “café
au lait spots.” The genetic locus for NF-I has
been localized to chromosome 17q11.2, an area
that encodes for the protein neurofibromin . This
protein is present in several organ systems and
is believed to be a tumor suppressor .
Neurofibromatosis type II (NF-II) manifests as
central neurofibromas with bilateral acoustic
neuromas and usually presents in the third or
fourth decade of life . The gene for NF-II has
been localized to chromosome 22 and encodes
for the protein schwannomin .
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Plexiform neurofibromas are large nerve tumors
that are locally invasive, feel like a “bag of
worms,” and have the potential for malignant
transformation.
Skeletal lesions:
Scoliosis is most common
Hypertrophy or hemiatrophy due to
neurofibromatosis can be seen
Congenital pseudarthrosis of the tibia and
forearm may be present.
Protrusio acetabuli
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CONGENITAL ELEVATION OF THE
SCAPULA
(SPRENGEL'S DEFORMITY)
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Results from a failure of the normal caudal
migration of the scapula during the fetal period
of development .
Scapula with this malformation is usually
hypoplastic with decreased vertical length and
increased horizontal width-to-height ratio ,
which is 2 to 10 cm more cephalad than normal
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ROTATION
The inferior pole is rotated medially with the glenoid displaced
inferiorly.
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The periscapular muscles may be hypoplastic or absent, causing
scapular winging .
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Right = left
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bilateral involvement = 10% to 30%
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Assossiated anomalies
Scoliosis
Klippel-feil syndrom
Rib cage
CDH
Hand
Foot
Renal
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polydactyly
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syndactyly
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Apart & Poland syndromes
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Transvers failure of formation
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Longitudinal failure of formation
Radial club hand
Ulnar club hand
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Radial club hand
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Radius deficiency 1:30,000
nearly always associated with thumb and carpal
deficiencies and frequently associated with other upper
extremity anomalies, anomalies of other organ systems,
and syndromes
VACTERL association (not inheritable; it may be
accompanied by Vertebral, Anal, Cardiac, TracheoEsophageal, Renal or Radial, and Lung anomalies)
Holt-Oram syndrome (autosomal dominant inheritance of
cardiac septal defects associated with upper limb
anomalies)
TAR syndrome (autosomal dominant or recessive
inheritance of completely absent radius with a nearnormal thumb and thrombocytopenia) .
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Radius deficiency is usually bilateral, although the
two sides are frequently asymmetric; when the
condition is unilateral, it is more common on the
right .
The radial wrist extensors and extrinsic thumb
motors are usually absent or aberrant. The
radial nerve is usually absent below the elbow,
and the median nerve is always present and
often the most prominent structure on the radial
side of the wrist. The radial artery is usually
absent.
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treatment
Children with type 0, 1, or mild type 2 radial
deficiency usually require stretching and
splinting
surgical treatment.
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Thumb Hypoplasia
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Compressive neuropathy of the median nerve within the carpal tunnel
may result from any space-occupying lesion under the TCL .
A frequent cause is flexor tenosynovitis; other causes are fractures and
dislocations of the floor of the canal and distal radius, and other
space-occupying lesions such as tumors and ganglia.
These space-occupying lesions increase the volume of the contents of
the noncompliant carpal tunnel, raising the pressure on its contents,
which include the median nerve.
In many cases, there are no particular identifiable causes even though
the nerve is clearly compressed. Although many of these cases are
attributed to “nonspecific synovitis,”
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Complain = aching or burning pain along the median nerve distribution
and of numbness and tingling in the median-nerve-innervated digits
during night and early morning as well as during activities.
(Numbness may extend into the ulnar digits in some patients.)
These symptoms are aggravated by elevation, repetitive activities, and
prolonged flexion positioning of the wrist. Radiation of symptoms
proximal to the wrist is not unusual.
Complaints of the hand feeling fat, clumsiness in manipulation, and
dropping items are also frequent.
The incidence is greater in women than in men, although the
difference is
decreasing. In the past, postmenopausal women were the most
common patients; commonly associated diagnoses were rheumatoid
arthritis and distal radius malunion.
Recently, a large, younger group of patients with essentially equal
distribution of women and men has emerged. In this group the
carpal tunnel disease has been labeled idiopathic .
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Examination includes sensory,
provocative, sudomotor, and strength
testing
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the most consistent and reliable way to
evaluate sensibility in nerve compression
is to use threshold testing (Semmes–
Weinstein monofilaments, vibrometry,
and 256 cps vibration testing) .
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Provocative tests compress or percuss
nerve to elicit the median numbness and
paresthesias in the distribution of…
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The mild group consists of patients with
intermittent symptoms that have been
present less than 1 year, who have
normal two-point discrimination, no
thenar weakness or atrophy, no
denervation potentials on EMG, and
mildly elevated NCV.
With conservative treatment and steroid
injection, 40% will be free of symptoms
at 12 months.
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The severe group consists of those with
profound, persistent symptoms that have
been present longer than 1 year, thenar
weakness or atrophy, and marked
abnormalities on electrodiagnostic studies .
Patients in the severe group fail to respond
adequately to conservative therapy and should
receive operative treatment, which may
include tendon transfers concurrent with
carpal tunnel release.
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In the moderate group, conservative
treatment shows findings and gives
results intermediate between those of
the mild and severe groups. The
presence of underlying disorders or
advanced age in any of these patients
diminishes the response to conservative
care.
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De Quervain syndrome
washerwoman's sprain,
radial styloid tenosynovitis,
de Quervain disease,
de Quervain's tenosynovitis,
de Quervain's stenosing tenosynovitis,
mother's wrist, or mommy thumb)
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history
Swiss surgeon Fritz de Quervain
1895
de Quervain's thyroiditis
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Pathology
.
extensor pollicis brevis
abductor pollicis longus
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Cause
The cause of de Quervain's disease is not known.
idiopathic.
overuse injuries
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Symptoms
Symptoms are pain, tenderness, and swelling over the thumb side of the wrist,
and difficulty gripping
Finkelstein's test
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Osteoarthritis of the first carpo-metacarpal
joint
Intersection syndrome—pain will be more
towards the middle of the back of the
forearm and about 2–3 inches below the
wrist
Wartenberg's syndrome
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treatment
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Kienbock's disease
It is named for Dr. Robert Kienböck, a radiologist in Vienna, Austria
who described osteomalacia of the lunate in 1910.
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Kienbock's disease
fewer than 200,000 people in the U.S.
population.
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It is breakdown of the lunate bone
is another name for avascular necrosis[
(death and fracture of bone tissue due to interruption of
blood supply) with fragmentation and collapse of the
lunate.
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Predisposing factors
a number of factors predisposing a person to Kienbock's.
Trauma
Ulnar variance
about one-third of sufferers report the condition in their non-dominant
hand.
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Classification
Type I
Normal radiograph (possible lunate fracture).
Type II
Sclerosis of the lunate without collapse.
Type III Lunate is completely dead.
Type IV Changes up to and including fragmentation, with superimposed arthritic change.
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Treatment
Revascularization
Radial shortening
Proximal Row Carpectomy
Titanium or silicon implant
Total wrist fusion
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