CLINICAL!!! Flashcards
Sternal Foramen (Cleft Sternum)
i.e.; perforated sternum
Caused by…
- incomplete fusion of sternal ossification centers
Mistaken for a bullet hole or sternal disease/fracture
Common acupuncture point (directly above heart)
4-10% population
Found in inferior of sternal body
Pectus Carinatum
Caused by…
- overgrowth of cartilage (connective tissue holds ribs to breastbone)
Sternum protrudes
Evident at birth; adolescent males
Pectus Exacavatum
i.e.; funner chest
Sternum inward
Caused by…
- overgrowth of costal cartilage
Restricts expansion
Talipes Equinovarus (Clubfoot)
1/1000 births (2x more frequent in males)
Sole of foot is turned medially (inverted foot)
Types:
- Flexible
- Rigid
Amelia
Full absence of limb
Caused by…
- early loss of Fgf signaling
Meromelia
Partial absence of limb
Caused by…
- later/partial loss of Fgf signaling
Mesomelia
Shortened forearm/leg
Phocomelia (Thalidomide Phocomelia)
Hands/feet attached to trunk
Caused by…
- partial loss of Fgf OR Hox gene disruption
Adactyly
Absence of digits
Caused by…
- even later loss of Fgf signaling
Ectrodactyly (Lobster Claw or Cleft Hand)
Absence of 1 or more central digits (divided into 2 parts opposing each other)
Remaining digits are partly or completely fused
Polydactyly
Extra digits (medial or lateral rather than central)
Caused by…
- upregulation of Shh pathway
Genetics: Dominant Trait
Syndactyly
Fusion of digits
Caused by…
- bmp or Shh disruption
- failure of apoptosis in digital ray
More frequent between 3rd and 4th fingers; 2nd and 3rd toes
Genetics: Simple Dominant or Simply Recessive
Brachydactyly
Short digits/stature
Reduction in length of phalanges
Genetics: Dominant Trait
Radial Dysplasia (Radial Club Hand)
Hypoplastic or absent muscular structures and radial nerve
Tx: early passive stretching exercises and corrective casting
Sirenomelia (Mermaid Syndrome)
Characterics:
- 1 umbilical artery
- single or fused lower limb
- renal agenesis/severe dysgenesis
- absent anus
- oligohydraminios amniotic fluid level
Tx… surgery:
1) fused legs are splayed in a v-type
2) saline sack insertion (stretching skin)
3) 2 operations; 3 months apart
4) last operation to rotate feet forward
Achondroplasia (Dwarfism)
Defect in endochondral bone formation (impairs longitudinal growth at tubular bones)
Caused by…
- mutation on Fgf-R3
- pathologic changes at epiphyseal plate (zones of proliferation and hypertrophy are narrow/disorganized)
Genetics: Autosomal Dominant
Osteogenesis Imperfecta (Brittle Bone Disease)
Easy predisposition to fractures and deformities (related to connective tissue abnormalities)
Caused by…
- defective genes (affecting collagen production)
Thoracic Outlet Syndrome
Caused by…
- impingement of blood vessels and nerves (brachial plexus) in space between collarbone and 1st rib (thoracic outlet)
Slide note:
- extra ribs arise from C7
Herniated Disc
i.e.; slipped disc/ruptured disc
Caused by…
- disc degeneration (aging-related)
- spinal cord loses water content (making them less flexible)
Kyphosis
i.e.; Sheuermann kyphosis
Forward abnormal/exaggerated THORACIC curvature
Caused by…
- developmental abnormalities
- osteoporosis (bone-thinning disorder)
- compression fractures
- degenerative disease (age-related)
Common in older women
Lordosis
Forward abnormal/exaggerated LUMBAR curvature
Caused by…
- congenital abnormalities
- musculoskeletal problems
- degenerative disease
Scoliosis
Lateral abnormal/exaggerated curvature of spine
Caused by…
- congenital
- neuromuscular (cerebral palsy; muscular dystrophy)
- idiopathic
Spondylolysis
Broken/loose vertebra
Common cause of “spondylolisthesis”
Caused by…
- Pars Interarticularis weakness
- trauma
- degenerative disease
Spondylolisthesis
Anterior/ventral displacement (slips-out) of vertebra
Common progression from “spondylolysis”
Congenital origin
Compression Fracture
Collapse of vertebra
Caused by…
- trauma
- degenerative disease
- weakening of vertebra
“Osteoporosis” is most common type
Sacralization
Fusion or partial fusion of L5 to sacrum
Congenital origin
Osteopenia
Thinning/reduction of bone mass
Caused by…
- degenerative origin
- hormonal (decreased estrogen/testosterone)
- smoking
- excess acohol
Osteoporosis
Diminishing bone density (bones prone to fracture)
Caused by…
- degenerative disease
Most common on hips, wrist or spine
Cervical Trauma
Articulated cervical vertebrae are less tightly interlocked (prone to dislocation)
Cause trauma to spinal cord
Burst Fractures (Jefferson Fracture)
Lateral masses of C1 are composed bewteen occipital condyles and axis (C2)
(fracturing anterior a/o posterior of C1)
May involve rupture of transverse ligament (resulting in dislocation)
Caused by…
- sudden/forceful compression of C1 (ex. diving accidents, roll-over car)
Fracture of Vertebral Arch (Hangman’s Fracture)
Fracture of pars interarticularis (traumatic spondylolysis of C2)
Caused by…
- hyperextension of neck (whiplash)
- severe causes of acceleration/deceleration syndrome
Dens Fracture
Fracture at base of dens or along body axis
Caused by…
- horizontal blow to head
Varicose Veins
i.e.; dilated/tortuous/enlarged/gnarled veins
Damaged/nonfunctional valves allow blood back-flow
Common in lower limbs
Caused by…
- age
- pregnancy
- obesity
Tx:
- sclerotherapy (irritant injected into smaller veins to cause scarring and closure)
Deep Vein Thrombosis (DVT)
Blood clot (thrombus) forms in deep veins
Common in sural (calf) or femoral (thigh) region
Caused by…
- pregnancy
- “economy class syndrome” (i.e.; airplane)
Risk factors:
- venous injury (from surgery or trauma)
- poor blood circulation
- heart failure
- increased blood thickness
- small blood clots
- prolonged immobilization
- increased blood clotting
- anticlotting factor deficiencies
- autoimmune disorders
- cancers
- platlet disorders
Tx:
- anticoagulant
Hypertension (High BP)
Chronically elevated BP (force of blood against artery walls is too high)
Damage to vessel wall => thickening of wall => decrease lumen
Types:
- primary (essential)
- secondary
Caused by…
- obstructive sleep apnea
- kidney problems
- adrenal gland tumors
- thyroid problems
- congenital
- alcohol/medication abuse
Sternal Cleft
Sternum sunken posteriorly
Caused by…
- defective sternal fusion (of paired mesodermal bands in ventral midline)
Cogenital Scoliosis
Abnormal lateral curvature of spine
Results from…
- disruption of normal vertebral development
- abnormal formation/segmentation of vertebral precursors (i.e.; somites)
Types of failures:
- formation (semi-segmented; fully segmented; wedged)
- segmentation (block vertebrae; unsegmented bar)
- mixed (unsegmented w/ Hemivertebrae)
Upregulation of ZPA
Addition of posterior elements
Loss of ZPA
Loss of posterior elements
Duplication of ZPA
Duplication of elements (smaller digits)
General Disruption of ZPA
Causes dysregulation of growth
- upregulation => too long
- lost => too short
Mirror Image Duplication
Caused by…
- misexpression of RA or Shh, or…
- duplication of AER
