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