Paediatric conditions Flashcards
What is Achondroplasia?
skeletal dysplasia resulting in big forehead, short limbs and wide nose, genu valgum
What is Osteogenesis imperfecta?
Brittle bone disease which is due to a defect in the maturation and organisation of type 1 collagen
What does Osteogenesis imperfecta present with?
blue sclera
short stature
loss of hearing
multiple fractures
What is Ehlers-Danlos Syndrome?
abnormal elastin and collagen formation
How does Ehlers-Danlos Syndrome present?
joint hyper mobility
vascular facility
scoliosis
What is Marfan Syndrome due to?
mutation of the fibrillin gene resulting in a tall stature and long limbs
What is Duchennes muscular dystrophy due to?
defect in the dystrophin gene which is involved in calcium transport
muscle is replaced with fibrofatty tissue
What is the investigation for Duchennes muscular dystrophy?
increased CK
muscle biopsy abnormalities
What is Spina Bifida?
congential disorder where two halves of the posterior vertebral arch fail to fuse causing an outpouching of nerves on the back that is usually surgically closed within 48 hours of life
What causes polio?
viral infection affecting the motor horn cells in the spinal cord and brainstem which results in a lower motor neurone deficit within 2-3 days
What is Achondroplasia due to?
mutation in the fibroblast growth factor receptor 3 - FGR3
80% spontaneous
Autosomal dominant
What is club foot?
congenital talipes equinovarus
What is the common presentation of club foot?
boys>girls 50% bilateral cavus adductus varus equines - upwards bending of ankle joint is limited
How is club foot treated?
ponseti surgery method
What is rocker bottom feet?
dislocation of the talus or navicular that presents with round plantar surface, equines hind foot
