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85 Cards in this Set
- Front
- Back
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Instability at C1-C2 junction, scoliosis, dislocated hips, dislocated patella, flat feet
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Down syndrome
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Webbing of neck and cubitus valgus
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Turner syndrome
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arms or thighs that are short relative to the entire limb
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rhizomelic dwarfism
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disproportionately short forearms or legs
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mesomelic dwarfism
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disproportionately short hands or feet
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acromelic dwarfism
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autosomal dominant
spontaneous mutations of FGFR3 on chromosome 4 abnormal growth of enchondral bones intramembranous ossification is unaffected |
achondroplasia
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limitation of elbow extension, trident hands (increased space between the third and fourth fingers), flexion contractures of the hip, and genu varum (bowlegs)
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achondroplasia
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autosomal dominant
abnl growth and ossification of the epiphysis symmetrically affects hips, knees, ankles, wrists |
multiple epiphyseal dysplasia
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autosomal dominant
osteochondromas in numerous sites |
multiple cartilagenous exostoses
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autosomal dominant (and others)
defect in type I collagen |
osteogenesis imperfecta
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diminished density and increased fragility of bones
blue sclerae, middle-ear deafness, ligamentous laxity, scoliosis |
osteogenesis imperfecta
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long, thin limbs
ligamentous laxity scoliosis, dislocation of patella, flat feet, deformities, hypotonia dislocation of lens, retinal detachment, aortic aneurysm |
Marfan syndrome
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autosomal dominant
defect in fibrillin |
Marfan syndrome
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instability of the cervical portion of the vertebral column due to hypoplasia of the dens, scoliosis and/or kyphosis, a keel-like sternum (pectus carinatum), laxity of the joints, knock-knees, and dysplastic hips
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Morquio syndrome
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autosomal recessive
mucopolysaccharidosis - Keratan sulfate accumulates |
Morquio syndrome
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autosomal recessive
bone infarcts, arthritic change |
sickle cell anemia
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widening of epiphyseal plates
leg bowing short stature normal serum Ca, elevated alk phos |
hypophosphatemic vitamin D-resistant rickets
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sex-linked dominant
faulty proximal tubular reabsorption of phosphate |
hypophosphatemic vitamin D-resistant rickets
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sex-linked recessive
arthropathy from repeated intraarticular bleeds pseudotumors |
hemophilia
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sex-linked recessive
weakness beginning at age 4 or 5 pseudohypertrophy of calves |
Duchenne muscular dystrophy
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laxity of the ligaments resulting in subluxation of head of the femur
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developmental displacement of the hip
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foot is plantar-flexed and inverted
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congenital talipes equinovarus
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local failure of the vertebral arch to enclose the vertebral canal
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spina bifida
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failure of vertebral arch to enclose vertebral canal - bony defect only
skin attached at various points |
spina bifida occulta
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failure of vertebral arch to enclose vertebral canal - neural tissue exposed
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myeloschisis
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failure of vertebral arch to enclose vertebral canal - meninges protrude
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meningocele
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failure of vertebral arch to enclose vertebral canal - nerve roots/spinal cord protrudes within meninges
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meningomyelocele
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failure of osteoclast-mediate bone resorption
calcified cartilage appears denser |
osteopetrosis
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most frequent consequence of radiation
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microcephaly
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deafness, cataracts, microcephaly, mental retardation, cardiac abnormalities, thrombocytopenia, metaphyseal bony abnormalities
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congenital rubella
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pseudoparalysis of a limb as a consequence of separation of an epiphysis
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congenital syphilis
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consequence of thalidomide
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limb malformations
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consequence of maternal trauma
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banding --> congenital banding (Streeter dysplasia), amputation
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congenital flexion contracture of the PIP join
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camptodactyly
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preaxial border of the limb is hypoplastic or absent
the forearm is shortened, the radius absent or missing, and the hand falls into radial deviation. The radial digits are frequently hypoplastic, and the thumb may be absent while the ulnar digits are normal. |
radial hemimelia
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proximal portion of the femur is hypoplastic or absent
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proximal femoral focal deficiency
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longitudinal deficiency of the postaxial border of the leg
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fibular hemimelia
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segmental abnormalities of the cervical spine due to defective embryogenesis
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Klippel-Feil Syndrome
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rotational contracture of the cervical region, usually muscular origin
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torticolis
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vertebral, anal, tracheo-esophageal, renal, and radial abnormalities
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VATER syndrome
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congenital failure of the scapulae and shoulder girdle to descent
elevated shoulder with a short webbed neck |
Sprengel deformity
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loss of capsular laxity in the glenohumeral joint
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frozen shoulder
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lesion of serratus anterior
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winged scapula
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fracture of the lower inch of the radius
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Colles fracture
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compression or laceration of antecubital vessels
pain, pallor, pulselessness, paresthesieas distal to elbow |
supracondylar fracture --> volkmann ischemia
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most dislocated hand bone
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lunate
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most fractured hand bone
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scaphoid
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PIP hyperextension and MCP and DIP joint flexion
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swan neck deformity
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PIP flexion deformity
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boutonniere deformity
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the fourth and fifth fingers are hyperextended at the MCP joints by the long extensors but flexed at the interphalangeal joints
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hand of benediction (ulnar nerve disruption below mid-forearm)
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metacarpophalangeal joints are extended and the interphalangeal joints flexed by the still functional extrinsics
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complete clawhand (ulnar and median nerves disrupted)
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pain, sensory disturbance, and weakness in the distribution of the median nerve in the hand
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carpal tunnel syndrome
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Trauma or inflammation of the flexor tendon sheaths may produce a tenosynovitis that leads to cicatricial stenosis of the sheath. Associated proximal swelling and thickening of the tendons interfere with their movement in the sheath, producing a sudden snapping or popping during flexion and extension and occasionally locking the digit in a flexed or extended position
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trigger finger
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The arm cannot be raised,
Elbow flexion is weakened Paralysis of the rhomboids and serratus anterior |
Erb palsy
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Gait with femoral anteversion (greater than 15 degrees)
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intoeing gait
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fracture of the proximal femur
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limb appears shortened; is externally rotated
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positive Trendelenburg sign (sagging of contralateral side when standing on affected leg)
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weakness of the gluteus medius or gluteus minimus
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blood supply to meniscus
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internal 2/3 don't heal well
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most common cause of compartment syndrome
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trauma
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Limp resulting from pain
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antalgic - shortened stance phase on affected side
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Limp resulting from pain in hip joint
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coxalgia - shortened stance phase on affected side + lurch of trunk toward painful side during stance phase
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Abductor lurch
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Weak gluteus medius - lurch of trunk towards weakened side during stance
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gluteus maximus lurch
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trunk lurches backward at heel-strike on weakened side
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quadriceps paralysis
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normal walk on level surface
unable to run or walk on incline/stairs |
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calcaneus gait
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tendocalcaneus is divided or gastroc/soleus are paralyzed
extension of the hip by the gluteus maximus and hamstring muscles substitutes for nl push-off |
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difference in lower limb length
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lowering of shoulder on side of shorter limb during stance phase
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Type of collage found in articular cartilage fibrils
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Type II collagen and type XI collagen
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genetic defects in type II and XI collagens
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Stickler syndrome
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structure of aggrecan
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chondroitin sulfate and keratan sulfate GAGs on one core protein
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how the chondrocyte maintains the cartilage matrix
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secrete enzymes
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mechanisms of hyaline cartilage repair
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replaced with fibrocartilage and eventually hyaline-like cartilage
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primary changes in synovial fluid caused by diseases of the synovial membrane
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1) increase in fluid volume
2) color change (clear --> yellow/white) 3) increased opacity 4) decreased viscosity |
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means by which synovial joints are lubricated
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synovial fluid (ultrafiltrate of blood plasma plus hyaluronan, phospholipids, glycoproteins)
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pathogenesis of RA
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T cells respond to HLA class II and peptide --> activation
cytokines rheumatoid factor (from B lymphocytes) |
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clinical findings in RA
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symmetric polyarthralgias, morning stiffness, fatigue
predilection for wrists and hands ulnar deviation, swan-neck and boutonniere deformities osteopenia, narrowed joints |
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pathologic findings in RA
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synovial membrane infiltrated with macrophages, lymphocytes, plasma cells, granulocytes
rheumatoid nodule - fibrinoid center, epithelioid cells, lymphocytes synovial membrane hypertrophy |
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Recombinant molecule therapies for RA
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TNF inhibitors: Etanercept, Infliximab, Adalimumab
IL-1 receptor antagonist: Anakinra |
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Measures to reduce cytokines in RA
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inhibition of TNF-a with monoclonal Ig
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Sjogren syndrome
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keratoconjunctivitis sicca and xerostomia
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immunologic findings in RA
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rheumatoid factor
antibodies to CCP elevated ESR normochromic, normocytic anemia |
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DMARDs include
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methotrexate, sulfasalazine, hydroxychloroqine, lefunomide
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young to middle-aged men
insidious onset of pain and stiffness in lower back loss of spinal mobility HLA-B27 associated |
ankylosing spondylitis
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arthritis of large joints (knees and ankles)
uveitis, skin lesions, urethritis linked to chlamydia infection |
reactive arthritis
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asymmetrical oligoarthritis
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psoriatic arthritis
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peripheral arthritis associated with erythema nodosum
many are HLA B27 positive |
IBD associated arthritis
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