Cortext Week 3 Flashcards
What disease in children is a defect of the maturation and organisation of type I collagen?
Osteogenesis imperfecta - autosomal dominant
What condition presents in children with multiple fragility fractures, short stature, blue sclerae and loss of hearing?
Osteogenesis imperfecta
What skeletal dysplasia is the commonest form, is autosomal dominant and results in disproportionately short limbs with a prominent forehead and widened nose?
Achondroplasia - joints are lax and mental development is normal
What condition do some connective tissue diseases result in?
Hypermobility
What are people with geneeralised familial joint laxity (dominant inheritance) prone to?
Recurrent dislocations of joints edpecially shoulder and patella
What gene is affected in Marfan’s?
Autosomal dominant sporadic mutation of fibrillin gene
Name three features of Marfan’s?
Tall stature, disproportionatley long limbs and ligamentous laxity
What condition has these associated features: high arched palate, scoiliosis, flattening of chest (pectus excavatum), eye problems (lens dislocation, glaucoma and retinal detachment), aortic aneurysms and cardiac valve incompetence (mitral valve prolapse and regurgitation)?
Marfans syndrome
What condition involves abnormal collagen and elastin formation, it is autosomal dominant and more than 10 types have been described?
Ehlers-Danlos sybdrome
What condition has clinical features of profound joint hypermobility, vascular fragility with ease of bruising, joint instability and scoliosis?
Ehlers-Danlos syndrome
What MSK manifestations can occur with Downs syndrome?
Short stature, joint laxity, recurrent dislocations and atlanto-axial instability in the c spine
What inheritence do muscular dystrophies tend to have?
X-linked recessive - only affecting boys
What gene is affected in DMD?
Dystrophin gene involved in calcium transport resulting in muscle weakness
What clinical sign is suggestive of DMD?
Gower’s sign
How is diagnosis of DMD confirmed?
Raised serum creatinine phosphokinase and abnormalities on muscle biopsy
When is the onset of cerebral palsy?
2-3 years
What are these all causes for: brain malformation, intrauterine infection in early pregnancy, prematurity, intracranial haemorrhage, hypoxia during birth and meningitis?
Cerebral palsy
What is the commonest expression of CP?
Spastic CP 80% of cases - with injury to motor complex, upper motor neurons or corticospinal tract
What does ataxic cerebral palsy affect?
Cerebellum - reduces coordination and balance
What does athetoid cerebral palsy affect?
eXTRAPYRIMIDAL MOTOR SYSTEM, pyrimidal tract and basal ganglia which results in uncontrolled writhing motion, sudden changes in tone and difficulties controlling speech
What medication can be given in cerebral palsy to reduce spacisity?
Baclofen and Botox
What is spina bifida?
Congenital disorder where the two halves of the posterior vertebral arch fail to fuse, probably in first 6 weeks of gestation
In the mildest form of spina bifida - spina bifida occulta what two foot manifestations can be causd?
High arched foot (pes cavus) and clawing of the toes
In spina bifida - what can be a sign of the underlying defect?
Tuft of hair
Name a condition associated with spina bifida cystica?
Hydrocephalus
What viral infection affects motor anterior horn cells in the spinal cord or brainstem resulting in a lower motor neurone deficit?
Polio
How does polio enter the body?
Via the GI tract with a flue-like illness
What is the commonest congenital malformation of the limbs?
Syndactyly - where two digits are fused due to failure of seperation of the skin/soft tissues or phalanges of adjacent digits either partially or along the entire length of digits
What is fibular hemimelia?
One of the most common limb deficiencies which involves partial or complete absence of the fibula often with absence of the lateral foot rays leading to a shortened limb, bowing of the tibia and ankle deformity
What is the commonest type of brachial plexus injury?
Erb’s palsy - injury to the upper C5 and C6 nerve roots resulting in loss of motor innervation of the deltoid, supraspinatus, infraspinatus, biceps and brachialis muscles
What condition presents with internal rotation of the humerus and may lead to the classic waiter’s tip posture?
Erbs palsy
What is Klumpke’s palsy?
Lower brachial plexus injury (C8 & T1 roots) caused by forceful adduction which results in paralysis of the intrinsic hand muscles +/- finger and wrist flexors and possible Horner’s syndrome. The fingers are typically flexed (due to paralysis of the interossei and lumbricals which assist extension at the PIP joints).
What allignment of the knees do children have at birth?
Varus (bow legs) which align neutrally at 14 months
At age 3 what allignment of knees do children have?
Knock knees - valgus
What might excessive genu varum be due to?
Growth disorder of medial proximal tibial physis known as Blounts disease
Give three causes of intoeing in children?
- Femoral neck anteversion
- Internal tibial torsion
- Forefoot adduction
How do you differentiate between mobile and fixed flat feet?
Jacks test - mobile feet (related to ligamentous laxity) are those where the flattened medial arch forms with dorsiflexion of the great toe
What underlying bony abnormality could be present with fixed flat feet?
Tarsal coalition
What condition involves dislocation or subluxation of the femoral head during the perinatal period which affects the subsequent development of the hip joint?
DDH - developmental dysplasia of the hip
What gender is more commonly affected by DDH?
Females - 80% of cases. left hip is more common but 20% of cases are bilateral. Risk factors include breech presentation, first born babies, Downs syndrome.
Name three clinical signs of DDH?
- Shortening
- Assymetric groin/thigh creases
- Click/Clunck on Ortolani test and Barlow manouvre
What is Ortolani test?
Unstable hips with a positive Ortolani test (reducing a dislocated hip with abduction and anterior displacement)
What is Barlows test?
Dislocatable hip with flexion and posterior displacement
How should DDH be investigated?
With ultrasound before 4-6 months but x-ray after
With DDH - what type of harnwess holds persistently unstable hips?
Pavlik
What is the most common cause of hip pain in childhood?
Transient synovitis - selflimiting inflammation of synovium of joint, most commonly the hip
What does transient synovitis commonly occur after?
URTI - typical age is between 2 and 10 years and boys are more commonly affected
How does transient synovitis present?
With a limp or reluctance to weight bear
How is transient synovitis treated?
With NSAIDS and rest
What condition is an idiopathic osteochondritis of the femoral head which usually occurs between ages 4 and 9 and is more common in active boys of short stature/
Perthes disease
What is the first clinical sign of Perthes?
- Loss of internal rotation
- Loss of abduction
- Positive Trendenburgs test
Who does SUFE affect?
overweight pre-pubertal adolescent boys where the femoral head epiphyses slips inferiorly in relation to the femoral neck
Give two conditions that may predispose to SUFE?
Hypothyroidism and renal disese
Is SUFE likely to be bilateral?
1/3rd of cases are
How do SUFE patients present?
With pain and limp. pain may be felt in groin however can sometimes present with only knee pain (obturator nerve). Predominant clinical sign is loss of internal rotation.
How is SUFE treated?
Urgent surgery to pin the femoral head and prevent further slippage
What is apophysitis and what two locations can it appear?
Inflammation of growing tubercle where a tendon attaches. Can occur at either end of patellar tendon due to strain - tibial tubercle is Osgood Schlatter and inferior pole of patella is Sinding-Larsen-Johanssen disease.
What allignment of the knees can predispose to adolescent knee pain in girls?
Valgus and femoral neck anteversion
What ligament is usually torn when the patella dislocates?
Medial patellafemoral ligament. 20% first timers go on to have second episodes and 10% have multiple.
What is the condition where a fragment of hyaline cartilage with variable amount of bone fragments and breaks off the surface of the joint?
Osteochondritis dissecans
What joint and site are the most commonly affected in osteochondritis dissecans?
Knee and medial femoral condyle
How do osteochondritis dissecans patients present?
With poorly localiosed pain, effusion and occasional locking
What do some children have in relation to the menisci that can be a source of pain and a popping sensation?
Abnormally shaped discoid meniscus (usually lateral) which is circular ratehr than c shaped
What is talipes equinovarus?
Clubfoot
What condition involves ankle equinus (plantarflexion), supination of the forefoot and varus alignmnet of the forefoot?
Talipes equinovarus
What gender is more affected with talipes equinovarus?
Boys - breech presentation, family history and oligohydramnios is another risk factor
What splintage technique is used for talipes equinovarus?
Ponseti technique
What is spondylolisthesis?
Slippage of one vertebra over another and usually occurs at the L4/5 or L5/S1 level. Usually presents in adolescence after increased sporting activity.
What do spondylolisthesis patients present with?
Flat back and characteristic waddling gait
