Pediatric disorders Flashcards
(200 cards)
Osteogenesis Imperfecta
- “Brittle bone disease”
- Defect in maturation & organisation of type I collage.
- Autosomal dominant
Features of Osteogenesis Imperfecta
- Multiple fragility fractures in childhood, short stature, blue sclerae, loss of hearing
- Osteopenia, thin (gracile) bones.
- Fractures heal with poor quality callus
What symptoms are associated with skeletal dysplasia?
Learning difficulties; spine deformity; limb deformity; internal organ dysfunction; cranio facial abnormalities; skin abnormalities; tumour formation; joint hypermobility; atlanto-axial subluxation; spinal cord compression and intrauterine or premature death
Achondroplasia
Autosomal dominant condition with disproportionately short limbs with prominent forehead and widened nose. Lax joints and normal mental development. A form of short-limbed dwarfism
Marfan’s syndrome
An inherited disease that affects your body’s connective tissue, which gives strength, support, and elasticity to tendons, cartilage, heart valves, blood vessels, and other vital parts of your body
Mutation of fibrillin gene
- Tall stature and ligamentous laxity, scoliosis, joint instability, pectus excavatun
Ehlers-Danlos Syndrome
- Autosomal dominant condition with abnormal elastin and collagen formation
- Joint hypermobility, vascular fragility, joint instability and scoliosis
- risk of bleeding (vascular fragility)
Down syndrome
- Trisomy 21
- Short stature, joint laxity, recurrent dislocation (patella)
- Atlanto-axial instability in the c-spine
Spina bifida
Congenital neural tube defect in which the two halves of the posterior vertebral arch fail to fuse - baby’s spine does not form normally. As a result, the spinal cord and the nerves that branch out of it may be damaged.
Two main types – spina bifida occulta & spinabifida cystica
Spina bifida occulta
- Mild form. May have no associated syymptoms
- Tethering of spinal cord and roots causing pes cavus (high arched foot) and clawing of toes. Neurological symptoms at any age
- Tuft of hair or dimple in skin overlying the defect
Spina bifida cystica
More severe form. Contents of vertebral canal herniate through the defect. Can be just meninges (meningocele) or spinal cord/cauda equina (myelomeningocele) itself
Meningocele not associated with neurological symptoms. Myelomenigocele associated with neurological deficit below the lesion.
Associated with hydrocephalus
Degree of disability depends on spinal level affected.
Polio/ poliomyelitis
Viral infection affecting motor anterior horn in spinal cord or brainstem resulting in lower motor neurone deficite
Syndactyly
Most common. Two digits are fused to failure of separation of skin and soft tissue of adjacent digits. Surgical separation indicated
Polydactyly
Extra digit. Amputation
Fibular hemimelia
Complete or partial absence of fibular. Leads to shortened limb, bowing of tibia and ankle deformity.
Management of Fibular hemimelia
Limb lengthening in mild cases. Amputation and below knee prosthetics in more severe cases
Most common limb deformity
Syndactyly
Erb’s palsy
- Injury to C5 & C6
- Loss of innervation to deltoid, supraspinatus, infraspinatus, biceps and brachialis muscle.
- Internal rotation of humerus
Klumpke’s palsy
- Injury to C8 & T1 caused by forceful adduction
- Paralysis of intrinsic muscles of hand, wrist flexors
- Fingers flexed
- Poor prognosis
Sits alone, crawls
6‐9 months
Child stands
8-12 months
Child walks
14‐17 months
Child jumps
24 months
Child manages stairs independently
Age 3
Loss of primitive reflexes (Moro reflex, stepping reflex, rooting, grasp reflex, fencing posture etc)
1‐6 months.