Reading...
Play button
Play button
Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
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) |
|
|
Achondroplasia
|
- 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 |
|
|
osteopetrosis
|
- 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 |
|
|
syndactyly
|
- failure of digit segmentation
- simple is just skin, complex is bone |
|
|
polydactyly
|
- postaxial AD
- preaxial (thumb), usually spontaneous |
|
|
camptodactyly
|
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 |
|
|
neurofibromatosis
|
- 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 |
