Congenital Abnormalities conditions - finished Flashcards
What is the radiographic presentation of spina bifida vera on xray?
AP and lateral projections: wide defect in posterior neural arch at multiple levels; possible soft tissue mass posterior to the spine.
What is Ehler-Danlos syndrome
A group of disorders that have a range of clinical features including:
easy bruising
joint hypermobility (loose joints)skin that stretches easily (skin hyperelasticity or laxity)
and weakness of tissues.
What are the 4 clinical characteristics of osteogenesis imperfecta? and what are the diagnostic criteria?
Diagnosed when 2 of the 4 are present:
1 - Osteoporosis with abnormal skeletal fragility
2 - Blue sclera
3 - Abnormal dentition
4 - Premature otosclerosis
Describe the findings in this image
All views - AP pelvis, could also look at a frogleg
Age - hard to tell age (need wrist and better view of iliac crest and VB
Artefacts - none
Alignment - Kleins, Shentons, acetabular depth, pubic symph width
Bone - exuberant calluses presenting as pseudotumours, widespread osteopoenia with pencil thin cortices, poor cellular matrix
Radiographic findings in osteogenesis imperfecta
Numerous fractures which heal with exuberant calluses and poor cellular matrix
Decreased bone density
Callus presents as pseudotumours
Bowing deformities and pseudoarthroses may follow fracture healing
Diffuse osteopoenia
Pencil thin cortices
Bone usually appears thin and may see persistent multiple Wormian bones and enlarged sinuses
Kyphoscoliosis
Vertebrae may be flattened, anteriorly wedged or biconcave
What is the radiographic presentation of spina bifida occulta on xray?
AP projection give optimal view; see lucent cleft between lamina, small or absent SP at that level
Lateral projection may display absence of spinolaminar junction line.
What are the common radiographic findings in downs syndrome?
Flexion and lateral projections are best taken
Increased ADI - indicated agenesis of the transverse atlantar ligament
C1 AP diameter decreased
Manubrium has multiple ossification centres
Small paranasal sinuses
Small AP diameter of Lx VB
What are some clinical symptoms of osteogenesis imperfecta?
Bone pain, hearing loss, bone deformity, short height, loose joints and weak muscles, triangular face, white ring of sclera around cornea.
Define Downs Syndrome
It is the most common autosomal syndrome. Due to trisomy of the 21st chromosome. Identified at birth by a small skull AP, small nose and flat bridge, slanting eyes and protruding tongue.
What is spina bifida and what are the 2 types
May be occulta or vera.
In occulta we see failure of the lamina to fuse posteriorly, usually with a cleft spinous process. Usually clinically insignificant and most commonly occurs at L5/S1
If occurring at C1, termed a spondylosis as there is no spinous process here.
In vera, the spinal cord or meninges may protrude.
What are the radiographical features of Ehler-Danlos Syndrome?
Calcified subcutaneous spherules in pretibial soft tissue and along the forearms
Posterior VB scalloping (CSF pulates in ectatic thecal sacs)
Diminished thoracic kyphosis (could almost be lordotic)
Spondylosis and spondylolisthesis
Pectus excurvatum or carinatum
Define osteogenesis imperfecta
A group of inborn connective tissue disorders characterised radiographically by decreased bone density. The underlying problem is abnormal collagen synthesis, in which a variety of different molecular defects in collagen produce a continuous spectrum of phenotypes.
What is the clinical presentation of Ehler-Danlos Syndrome?
Joint hyperextensibility
Higher predisposition for disc herniation
Hypermobility
Vascular fragility
Skin hyperelasticity and subcutaneous nodules (necrotic fat)
Cigarette paper skin caused by large scars covered by thin skin
Tall with characteristic gait
