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)
