Paediatrics Flashcards
Chromosomes in Patau’s vs Edwards
Patau’s - 13
Edward’s - 18
Features of Patau’s syndrome
- Microcephalic
- Small eyes
- Cleft lip/palate
- Polydactylyl
- Scalp lesions
Features of Edward’s syndrome
- Micrognathia
- Low-set ears
- Rocker bottom feet
- Overlapping of fingers
Features of Fragile X
- Learning difficulties
- Macrocephaly
- Long face
- Large ears
- Macro-orchidism
Features of Noonan syndrome
- Webbed neck
- Pectus excavatum
- Short stature
- Pulmonary stenosis
Features of Pierre-Robin syndrome
- Micrognathia
- Posterior displacement of tongue
- Cleft palate
Features of Prader-Willi syndrome
- Hypotonia
- Hypogonadism
- Obesity
Features of William’s syndrome
- Short stature
- Learning difficulties
- Friendly, extroverted personality
- Transient neonatal hypercalcaemia
- Supravalvular aortic stenosis
Features of Cri du Chat syndrome
- Characteristic cry due to larynx and neurological problems
- Feeding difficulties and poor weight gain
- Learning difficulties
- Microcephaly and micrognathism
- Hypertelorism
Hearing test used in newborn screening programme
Otoacoustic emission test
Hearing test used in newborns and infants
Auditory brainstem response test
Hearing test used at 6-9 months
Distraction test
Hearing test used at 18 months - 2.5 years
Recognition of simple objections, e.g. ‘where is the teddy’
Hearing test used >2.5 years
- Performance testing
- Speech discrimination testsH
Hearing test used >3 years
Pure tone audiometry
Features of chondromalacia patallae
- Common in teenage girls
- Anterior knee pain on walking up and down stairs and rising from prolonged sitting
Features of Osgood-Schlatter disease
- Seen in sporty teenagers
- Pain, tenderness, and swelling over tibial tubercle
Features of osteochondritis dissecans
- Pain after exercise
- Intermittent swelling and locking
Features of patellar subluxation
- Medial knee pain due to lateral subluxation of patella
- Knee may give way
Features of patellar tendonitis
- More common in athletic teenage boys
- Chronic anterior knee pain that worsens after running
- Tender below patella on examination
Features of DDH
- Barlow’s and Ortolani’s positive
- Unequal skin folds/leg lengths
Features of transient synovitis
- 2-10 years old
- Acute hip pain associated with viral infection
Features of Perthe’s disease
- 4-8 years old
- Hip pain developing over few weeks
- Limp
- Stiffness and reduced range of movement
10% cases bilateral
XR changes in Perthe’s disease
Early changes - widening of joint space
Later changes - decreased femoral head size/flattening