Paeds Key Points 3 Flashcards
Patau syndrome
Trisomy 13
Microcephaly, cleft palate, polydactyly, scalp lesions
Edward’s syndrome
Trisomy 18
Micrognathia, low set ears, rocker bottom feet, overlapping fingers
Fragile X syndrome
M>F, associated with MVP and autism
Macrocephaly, long face, large ears, learning difficulties
Noonan syndrome
Webbed neck, pectus excavatum, short, pulmonary stenosis
Pierre-Robin sequence
Micrognathia, cleft palate, posterior displacement of tongue
Prader-Willi syndrome
Hypotonia, hypogonadism, obesity
William’s syndrome
Deletion on Chr 7
Short, learning difficulties, friendly, transient neonatal hypercalcaemia, supravalvular aortic stenosis
Toddler’s diarrhoea
Undigested food in stool
Caput succedaneum
Present at birth - due to prolonged/difficult deliveries
Forms over vertex and crosses suture lines
Resolves in days - managed conservatively
Cephalohaematoma
Develops a few hours after birth - due to prolonged/difficult delivery
Commonly in parietal region and does not cross suture lines
Resolves in months - managed conservatively
Febrile convulsion
6 months - 5 years
Occur early in a viral infection
Generalised tonic-clonic seizures lasting <5 minutes with complete recovery within an hour
Is a risk factor for epilepsy
Mx
- first seizure or any complex features –> paediatrics
- giving paracetamol is good but it does not affect the chances of a febrile convulsion
Epilepsy risk factors
Family history, having complex febrile seizures, a background of neurodevelopmental disorder
Omphalocele
AKA exomphalos
Intestines and liver extend out of the body in a sac through the umbilicus
High foetal AFP
Gastroschisis
Intestines extend out of the body through a hole next to the umbilicus
No sac
Inheritance pattern of metabolic conditions
Autosomal recessive (except Gilbert’s disease and hyperlipidaemia type II)
Inheritance pattern of structural abnormalities
Autosomal dominant (except ataxias)
USS shows cervix/antral nipple sign
Pyloric stenosis
Noisy breathy/harsh sounds on inspiration
Stridor –> croup if <3 years –> give oral dexamethasone
Shaken baby syndrome
0-5 years old
Retinal haemorrhages + subdural haematoma + encephalopathy
Meckel’s diverticulum
2 feet from the ileocaecal valve, 2 inches long, 2 different mucosa (gastric and pancreatic)
Abdominal pain, rectal bleeding due to perforation adjacent to the diverticulum, intestinal obstruction
Ix - technetium 99 scan
Mx - remove if narrow neck or symptomatic
