CONGENITAL DEFORMITIES VOL2 Flashcards
OSTEOGENESIS IMPERFECTA
• a group of disorders characterized by fractures with minimal or
absent trauma, dentingenesis imperfecta, and hearing loss
• severe skeletal deformities, mobility impairments, and very short
stature to nearly asymptomatic individuals with a mild predisposition
of fractures, normal stature, and normal life span.
• Mutations in COLA1 or COLA2 characterize the underlying molecular
defect for OI types I to IV.
• TRIAD: brittle bones, blue eyes, deafness
• CLINICAL PICTURE: -wedge wood sclera (blue) due to decreased
opacity permitting pigmentation of the choroids to show through -
hypermobility of joints, thinning of the skin progressive deafness
• SABER SHIN – anterior bowing of tibia
• TYPE I - blue sclera - early onset deafness - hypermobility and
bruising –
• TYPE II - MOST SEVERE c NEONATAL Fracture - early death fracture
may occur from simple birth handling
• TYPE III - PROGRESSIVE ENTITY with BIZARRE SKELETAL DEFORMITY -
scoliosis - blue sclera - but color fades with age - extreme disability
and small
• TYPE IV – resemble Type 1 but the blue sclera fades away, vary in severity
OSTEOGENESIS IMPERFECTA- cont
OSTEOPOROSIS
• Bone density can decline as a direct result of OI, from immobilization
associated with casts or limited weight-bearing activity, and from agerelated changes in bone and the endocrine system
• Maintaining bone mass is a priority
• Calcium and vitamin D supplements
• Drug therapies including oral or intravenous bisphosphonates
MUSKULOSKELETAL
• pain in their lower back and hips - result of compression fractures of
the spine, scoliosis, or joint deterioration
• Knee pain, ankle instability, and rolling in of the ankle – laxity of the
joint
• Leg length discrepancy – due to frequency of fractures
• Unstable joints may increase degenerative changes – result in pain
PULMONARY
• Seen in Type III and Type IV
• individuals with significant curvature of the spine - restrictive lung
disease due to decreased chest volume, chronic bronchitis, and
asthma
• Sleep apnea is a related problem
CARDIAC
• Mitral valve prolapse
• Dilation of the aorta also may occur but is rare.
• High blood pressure and dyslipidemias may be present and may result
into coronary heart disease
HEARING and VISION
• Approximately 50% of all adults with OI will experience some degree
of hearing loss during their lifetime
• The connective tissue problem in OI can extend to the eyes and can
affect the shape of the lens and the strength of the sclera
GASTROINTESTINAL
• gastric acid reflux - which is aggravated by a decreased length of the
chest cavity, and chronic constipation.
• Short stature and frequent use of various pain medications can
contribute to the problem.
• Constipation symptoms should be treated aggressively.
BASILAR INVAGINATION
• Types III and IV OI.
• Basilar impression involves pressure from the spinal column on the
base of the skull.
• Symptoms can include headache, muscle weakness, and tingling or
numbness of hands and feet
TREATMENT
• Treat each symptom
• Avoid activity that can predispose to fractures
• Surgical intervention if necessary to correct a fracture and any
deformity
ACHONDROPLASIA
• Most common of the skeletal dysplasias
• autosomal dominant disorder and by a mutation in the gene that
codes for the fibroblast growth factor type 3 (FGFR3), which is located
on chromosome 4.
• Short stature with normal intelligence for both men and women ( 4 ft
ave) with brachiocephalic skull
• Life span less than 10 years of the normal population
• facial expression, high and broad forehead, flattered nose with
depressed bridge and prominent lower jaw is typical
• MAIN EN TRIDENT - hands are short and broad with pudgy fingers of
almost equal length, tend to spread in radial manner with a gap
between the 3rd and 4th fingers
• mentally developmental impaired
OTHER FORMS OF SHORT LIMB DWARFISM- ACHONDROPLASIA
• PSEUDOANCHONDROPLASIA - same manifestation but not present at
birth - face and cranium normal
• METAPHYSEAL CHONDROPLASIA - metaphyseal dysostosis -
metaphyseal changes seen in rickets - autosomal inheritance
• CHONDROECTODERMAL DYSPLASIA - Ellis Van Creveld Syndrome -
Short limb dwarfism - autosomal recessive - characterized by
polydactyly, dysplastic fingers, and distal shortening of forearm and
legs, teeth abnormalities.
• CHONDRODYSPLASIA PUNCTATA - Stippled Epiphysis - irregular
stippled calcification of epiphysis - proximal bones = most affected -
mongoloid faces
• DIASTROPHIC DWARFISM - characterized by short limb, multiple joint
contractures, external ear deformities - + hitchhiker’s thumb -
kyphoscoliotic posture - clubfoot deformities
CARDIAC and NUTRITION
• increased more than ten times that of the general population and
that males have a higher risk for cardiac diseases
• Obesity is a significant health problem
• Important to check the nutritional status to prevent cardiac related
morbidity
MUSKULOSKELETAL and NEUROLOGICAL
• Commonly leg pain and back pain
• Lumbar spinal stenosis with neurologic compromise is a common
complication - include weakness, pain, numbness, and bladder
incontinence.
• Postural kyphosis – usually disappears but some patients continue till
adulthood
• Foramen magnum stenosis – common cause of death in infants
QUALITY OF LIFE
• Fertility not affected however if a woman gets pregnant, Ceasarian
section should be done
• High risk for uterine fibroids – judicious use of contraceptives
• Lower quality of life and self – esteem
CONGENITAL HIP DISLOCATION
• Congenital hip dysplasia – dislocatable hip of the newborn
• Acetabular dysplasia – changes in hip socket that are demonstrable
on radiographs after age of 3 to 4 months.
• Congenital subluxation – hip that is neither completely dislocated nor
concentrically seated in acetabulum
• 1 – 2 per 1000 births
• More common in females
• Uncommon in blacks and Chinese but common in Northern Italians
and Japanese
• Unilateral more common usually on the left side
• Common in breech and kids with other congenital anomalies
ETIOLOGY
• Exact cause: UNKNOWN
• But believed to be result from:
• Genetic Influences - Chromosome anomalies
• Intrauterine environmental influences Heavy irradiation,
Thalidomide, Folic acid antagonist, aminopterin, Rubella,
Toxoplasmosis ,Androgenic hormones
• Combined genetic and environmental influences
DIAGNOSIS
• NEONATAL PERIOD: birth to 1 month of age
• History - maternal
• Physical Examination:
• (+) Barlow Test
• (+) Ortolani’s Test
• (+) Abduction test for unilateral dysplasia
• positive, thigh on the dysplastic side cannot be abducted so far as the
thigh on the side with a normal hip and noted deepening of proximal
fold in the affected side.
DIAGNOSIS
• INFANCY – up to two years old
• History: maternal, tightness of legs when changing diapers
• Test for dislocation
• (+) short leg discrepancy
• (+) Galeazzi’s Sign
• (+) Telescoping or Piston Mobility if extended thigh is first push
toward the infant’s head ad the pulled distally, the greater trochanter
can be felt to move proximally and distally in the buttock
• OBSERVE THE GAIT PATTERN
• Slight delay in walking
• Abductor lurching gait - caused by shortened, impaired gluteus med
muscle (+) Trendelenburg Test
• In bilateral dislocation: Each step of patient, it lurches toward the
weight-bearing side due to instability of the hips with perineum is
wide, buttocks are wide, transverse gluteal fold are altered
• (+) waddling gait
• 2 – 6 years old
• this age, hip no longer slips in and out of the acetabulum
• (-) Ortolani and Barlow
• In unilateral cases limp is quite obvious
• (+) Trendelenburg sign (+) waddling gait (+)/(-) hip adductor
contracture (+) LOM on hip abduction, flexion and extension (+)
telescoping sign
• X-RAY
• Delayed growth of the ossification center of the capital epiphysis
• Upward and outward displacement of the femoral head
• Increased obliquity of the acetabular roof
TREATMENT
• Neonatal – Pavlik harness, splinting, Frejika pillows, usually
observation
• Infancy- splinting – 4 – 6 months, promote ROM
• 2 – 6 years old – tenotomy of the adductors, femoral osteotomy
• 6 years old above – concentric reduction of the femoral head in the
acetabulum with enough coverage
CONGENITAL KNEE DISLOCATION
• Hyperextension of the Knee (congenital recurvatum) - more common
than true dislocation
• Complete anterior displacement of tibial condyles of femur -more
severe type
• CAUSE: abnormal positions in utero
PHYSICAL EXAMINATION
• Quadriceps contracture
• Anterior joint capsule contracture with absent or little patella
• Wrinkling of skin over patella
• Valgus/varus deformity of knee
• Lateral instability - may associated with tetraplegia
TREATMENT
• Gentle manipulation of joint and then casts in increasing flexion form
after reduction
• knee should be kept in flexed position by posterior splint - traction
followed by surgical release
• Simple hyperextension can be corrected
CONGENITAL TALIPES EQUINOVARUS
• Congenital Clubfoot
• Etiology unknown and usually associated with other deformities
• Twice common in boys than girls
• MOST STRIKING ABNORMALITY JOINT AFFECTED:
TALOCALCANEONAVICULAR JOINT
PHYSICAL EXAMINATION
• MOST COMMON CLINICAL PICTURE: - Heel is drawn, entire foot
below talus inverted anterior half of foot adducted
• Medial toe touch
• Shortened Achilles tendon
• Anterior and posterior tibial tendons are contacted
• Navicular bone displaced medially around head of talus - forefoot
follows medially - subtalar tilted into varus and equinus and IR -
calcaneus shortened -
X-RAY
• Anteroposterior view of: line drawn through the long axes of these
two bone diverge 20-30 deg - in Clubfoot: the calcaneus is inverted
beneath the talus, and these lines approaches paralleled – KITE’s
ANGLE - long axis of calcaneus: 20-30 deg
TREATMENT
• PONSETI METHOD – gold standard, considered now superior to
surgery
• Correction of Clubfoot: 1. Abduction 2. Eversion 3. Dorsiflexion
• Surgical Casting sequence 1. Adduction 2. Subtalar Inversion 3. Ankle
PF
• After casting for 6 – 8 times weekly – ACHILLES LENGTHENING
• Shoes for up to two years
TALIPES CALCAENOVALGUS
• eversion of the foot, increased DF of the ankle and apparent
lengthening of Achilles Tendon – USUALLY PRESENT AT BIRTH
• can be easily corrected by stretching
• Mild – No treatment
• Moderate – Gentle Stretching
• Severe – Light corrective cast for several weeks
METATARSUS VARUS
• -Quite common - more frequently than talipes equinovarus
• caused by combination of genetics and environmental factors
• adduction of forefoot at TMT joint
• (+)/(-) supination - described as 1/3 of clubfoot
• WIDENING BET. 1st and 2nd toes – METATARSUS PRIMUS ADDUCTUS
- One of the most common cause of Pigeon toes
TREATMENT
• Mild – stretching into forefoot abduction while holding the hindfoot
inverted - five/six times a day
• Moderate – BOOT CAST; surgical treatment
CONGENITAL VERTICAL TALUS
• (Congenital Convex Pes Valgus) - uncommon;
• birth -severe form of flatfoot
• excessive PF of talus
• SIGNS:
• (+) calcaneus equines (+) navicular bone dislocated (+) prominent
talus - (+) rocker bottom deformity
TREATMENT
• Infant: alignment of foot c PF; talus by a series of cast
• Early Surgical Tx: - to reduce talovnavicular joint and correct the
hindfoot equines - if not corrected, foot may be painful and disabling
CONGENITAL CLUBHAND
• Congenital Absence of Radius - uncommon congenital malformation
usually associated with complete or partial absence of radius
• More common in boys than girls
• More commonly unilateral
• marked radial deviation of hand with shortening of the forearm
PHYSICAL EXAMINATION
• THUMB RAY – underdeveloped/absent radial carpal bones usually
navicular Ulna is almost always bowed; concavity directed toward the
radial side - hands are small
• shoulder girdle underdeveloped - absent radial nerve, artery, muscles
of the thumb
• MEDIAN NERVE – takes over the sensory function of RADIAL NERVE -
elbow abnormal (LOM)
CONGENITAL RADIOULNAR SYNOSTOSIS
• Infrequent congenital anomaly and occurs as rule at proximal end
of radius and ulna
• Bilateral - fibrous union between bones in lower third of forearm
• Head of radius dislocation - absent elbow joint - elbow extension
LOM
CONGENITAL CONTRACTURES and AMNIOTIC
BANDS
• Camptodactyly - flexion contracture of finger
• Syndactyly - webbed fingers
• Macrodactyly - overdevelopment of more fingers or toes
• Amniotic bands - more common in fingers and toes - obstructs
circulation of distal tissues leading to gangrene and intrauterine
amputation - result from prenatal environment produces either a
focal mesenchymal defect or rupture of amnion
ARTHROGRYPHOSIS MULTIPLEX CONGENITA
• incomplete congenital fibrous ankylosis of many or all joints of limbs
– symmetrical,
• joint capsules thickened and contracted
• decreased muscle bulk
PHYSICAL EXAMINATION
• TRIAD:
1.) shoulder IR and flexion contracture
2.) elbow and knees fusiform appearance
3.) absence of biceps
• hip flexed and ER (+) dislocation or (-) patella - (+) clubfoot - (+)polydactyl / syndactyly - (+) brachialis
• TREATMENT: casting and soft tissue release
OTHER BONES
• Fibula
• MOST COMMON CONGENITAL ABSENCE THAN ANY OTHER LONG BONES
bowed anteriorly, foot short
• Patella
• ossification center in upper and lateral segment fails to fuse with the
remainder of bone - BIPARTITE PATELLA
• underdevelopment of quads tendon with congenital dislocation of knee
• often to be seen in uncommon inherited disorders known as ONYCHOOSTEODYSPLASIA or NAIL-PATELLA syndrome [hypoplasitc/ (-) patella]
