Paeds Flashcards
Describe Fragile X syndrome
Features of macrocephaly, prominent ears and jaw, learning difficulties and behavioural problems.
It is the most common inherited cause of LD in boys.
X linked inheritance CCG
Describe Patau’s syndrome
Patau syndrome (Trisomy 13) presents with severe congenital malformations including microcephaly (not macrocephaly), cleft lip/palate, polydactyly, cardiac defects and severe intellectual disability. Most affected individuals do not survive beyond infancy due to multiple organ system involvement.
Describe Edward;s syndrome
Edward’s syndrome (Trisomy 18) presents with growth retardation, severe intellectual disability, microcephaly, overlapping fingers, rocker-bottom feet, congenital heart disease and other anomalies.
Describe Williams syndrome
LD
facial features: small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes.
Aortic stenosis
Describe Pierre-Robin syndrome
triad of micrognathia (small lower jaw), glossoptosis (downward displacement or retraction of the tongue) and airway obstruction.
Most common causitive agent of bronchiolitis vs croup?
Respiratory syncytial virus for bronchiolitis
Parainfluenza virus for croup
What is osgood-schlatters disease?
Seen in sporty teenagers
Pain, tenderness and swelling over the tibial tubercle
What is Chondromalacia patellae?
Softening of the cartilage of the patella
Common in teenage girls
Characteristically anterior knee pain on walking up and down stairs and rising from prolonged sitting
Usually responds to physiotherapy
What is patellar tendonitis?
More common in athletic teenage boys
Chronic anterior knee pain that worsens after running
Tender below the patella on examination
What is perthes syndrome? Presentation? What does it show on xray? What is the management?
Perthes’ disease is due to avascular necrosis of the femoral head.
Features
typically presents as age 4-8 years. 5 times more common in boys
hip pain: develops progressively over a few weeks; limp; stiffness and reduced range of hip movement
x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening
Treatment: keep femoral head within the acetabulum: cast, braces
If <6 years: observation
Older: surgical
Describe Noonans syndrome
Webbed neck
Pectus excavatum
Short stature
Pulmonary stenosis
What differentiates different causes of precocious puberty in boys?
The testes:
bilateral enlargement = gonadotrophin release from intracranial lesion
unilateral enlargement = gonadal tumour
small testes = adrenal cause (tumour or adrenal hyperplasia) - excess androgens but no LH or FSH produced in this case so tests left alone
What is Slipped upper femoral epiphysis typical presentation?
10-15 years, obese
How does transient synovitis present?
Acute onset
Usually accompanies viral infections, but the child is well or has a mild fever
More common in boys, aged 2-12 years
