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30 Cards in this Set

  • Front
  • Back
Down syndrome skeletal things
- instability at C1-C2 juction
- scoliosis
- disloated hips and patella
- severe flat feet
Turners syndrome skeletal things
- webbed neck
- cubitus valgus
types of dwarfism
- rhizomelic (arms and thighs short relative)
- mesomelic (forarms and legs short relative)
- acromelic (short hands or feet)
- AD, mutations on FGFR3 on 4(many spontanous)
- rhizomelic dwarfism w/ big head, esp forehead
- bones wide, flaring of met
- spinal stenosis
- limiation of elbow extension, trident hands
- flexion contractures of hip
- genu varum
Multiple Epiphyseal Dysplasia
- AD, variable expressivity
- epiphysis has abnormal growth and oss
- bilateral oh hips, knees, ankles
- oss centers small
- all this causes degenerative aritiris -> disability by 30's
Multiple Cartilaginous Excostosis
- AD, EXT1 on Chrom 8
- osteochondromas in numerous sites, esp distal femur and prox femur, tibia, and humerus
- pain, neurovascular compromise, interferance w/ joint, possilbe sarcomas
osteogenesis imperfecta
- usually AD, can be AR
- low density, fragile w/ many fractures (that heal well) and deformities
- short, blue sclera, middle ear deafness, lig laxity, scoliosis
- from defects in type 1 collagen
Marfan syndrome
- AD, chromosome 15
- long thin limbs w/ lig laxity
- recurrent patella dislocation, flat feet
- flexion defomities of fingers and toes
- muscle hypotonia
Morquio syndrome
- AR, accumulation of mucopolys in ECF of CT
- short stature, hypoplasia of dens (cervical instability)
- scoliosis, kyphosis
- pecture carinatum
- lax of joint, knock nees, dysplastic hips
- corneal opacity, abnormal dentition b/c karatin sulfate accumulates
Hypophosphatemic VD reisitant Rickets
- sex linked dominant, variable expressivity
- faulty reabsorption of P
- widening of physes, bowing of legs, short
- low P, normal Ca, AP high
devopmental dysplasia of the hip
- mutlifactorial genetic
- 6x more often in females
- can be found w/ other abnormalities
congenetial talipes equinovarus
- mutlifactorial genetic, some are AD w/ reduce penetrance
- clubfoot, plantar flexed and inverted - 1/2 bilateral
- mutlifactorial genetic
- marlbe bone disease (Albers-Schonberb disease)
- bones extra dense, more brittle
- from lack of clasts, so calcified cartilage persists unremodeled
radiation in pregnancy and MSK defomity
- minaly microcephaly
- ok after conception before implnatation
- dx ok, but not therapeutic
rubella and defomities
- metaphyseal bony abnormalities and retarted growth
- deafness, cataracts, microcephaly
- retardation, thrombocytopenia, cardiac problems
congenital syphilis
- pseudopariasis of a limb from separation of the epiphysis
- long bones show irregular, sclerotic epiphyseal lines
Streeter dysplasia
- congenital banding
- postnatal growth may lead to constriction that limits circulation distal to the band
- failure of digit segmentation
- simple is just skin, complex is bone
- postaxial AD
- preaxial (thumb), usually spontaneous
congenital flexion of PIP
radial hemimelia
- preaxial border of the limb is hypoplastic or absent
- forearm shortened, radius absent, hand falls into radial deviation
- radial digits frequently hypoplastic, thumb may be absent
- ulnar digits are normal
Proximal Femoral Focal Deficiency (PFFD)
- proximal femur hypoplastic or absent
- range of deficits
Fibular Hemimelia
- longitudinal deficiency of the postaxial border of the leg
- foot may be normal while only the fibula is deficient
Klippel-Feil Syndrome
- segmental abnormalities of the cervical spine
- Fusions, especially C2 and C3, mean restricted motion
VATER syndrome
vertebral, anal, tracheo-esophageal, renal and
radial abnormalities occurring concomitantly
Sprengel Deformity
- failure of the scapulae and shoulder girdle to descend from cervical spine
- elevated shoulder with a
short-webbed neck
- AD w/ variable penetrance
– multiple system
– Café-olay spots
– Tibial Pseudo-Arthrosis
1/10 people w/ congintal scoliosis have?
a GU abnormality
Radio-Ulnar synostosis
- Not diagnosed at birth, usually at 3 or 4
– it blocks suppination and pronation, and its not noticed until then
Madelung’s Deformity
- V shaped proximal carpal row
- Congenital may be due to an abnormal fibrous band tethering the sigmoid notch of the radius proximally to the ulna and slowing the growth
- Traumatic may follow partial growth arrest of the distal radius