Congenital bone dysplasias Flashcards
_____ is the most common cause of short limb dwarfism
Achondroplasia
All bones are formed via endochondral ossification except what two bones
Skull
Clavical
Symptom of achondroplasia resulting femurs and humeri to be shortened
Metaphyseal flaring (trumpet like appearance)
Fibula head is at the same level as the tibia plateau
Long fibula
T/F in achondroplasia the bones appear to be thinner
False- the bones appear thickened
In achondroplasia the hand appear as ______
Trident hand
What happens to the ilium in achondroplasia
Flaring of the iliac wings
What happened to the pelvis in achondroplasia?
Champagne glass pelvis
What happens to the pedicle relationships in achondroplasia
Narrowing of the interpedicular distance
Narrow of interpedicular distance can contribute to what?
Spinal stenosis and neurological manifestations
T/F Manipulation can help with narrowing of the foremen magnum
False- it is conraindicated
Osteogenesis imperfect effects the formation of what type of colagen
Type 1 collagen
osteoporosis and fragile bones that fracture easily also blue sclera, teeth fragility, and hearing loss.
Osteogenesis imperfecta
Osteogenesis imperfecta type ___ lethal and many die in utero or right after birth
Oetogenesis imperfect Type II
This type of osteogenesis imperfecta is progressively deforming
Type III osteogenesis imperfecta
osterogenesis imperfecta a must be differentiated from ______ in children
Non-accidental trauma
____ bones affected by bending bowing and fragility with fractures
Gracile thin bones
Intra-sutural bones outside of the lambdoid suture
Multiple wormian bones
how does osteogenesis imperfecta in the sclera
Blue Sclera
____ is a connective tissue inherited disease causing defect in fibrillin 1 structural protein in collagen
Marfan Syndrome
Marfan syndrome has a defect in what protien
Fibrillin 1
What can happpen to the aorta with marfan syndrome
Cardiovascular disease due to aortic dilation and distension
Patients are tall with disproportionate long extremities and have pectus excavatum, arachnodactyly, scoliosis, recurrent dislocations, high arched palate, protrusio acetabule and other skeletal and soft tissue abnormalities
Marfan Syndrome
What does EDS stand for
Ehlers-Danlos Syndrome
What are the major symptoms of Ehlers-Danlos Syndrome
skin hyperelasticity and fragility
Joint hypermobility
poor tissue healing
blood vessel fragility
A disorder that arises from defective osteoclasts
Osteopetrosis
What happens to bones during osteopetrosis
bones become sclerotic and thick being weak and brittle
How bones with osteopetrosis appear in x-rays
bone within a bone
or Tubular bones (Erlenmeyer flask deformity)
or dense bands around vertebral end-plates (sandwhich vertebrae)
What might you observe in a patient with osteopetrosis
cranial nerve compression
severe anemia and infection
Liver and spleen enlargement
multiple fractures
How might Neurofibromatosis type 1 (von recklinghausen) appear radiologically
scoliosis ribbon ribs deformity, rib notching and dysplasia, tibial pseudoarthrosis, severe bowing of limbs both lateral and anterior
If you see more than ___ cafe au lait spots in the axilla, this is a sign of NF type 1
more than 6 spots in the axilla
