What are the features of Patau syndrome (trisomy 13)?
What are the features of Edward’s syndrome (trisomy 18)?
What are the features of Fragile X syndrome?
Trinucleotide repeat disorder causing:
- Learning difficulties
- Macrocephaly
- Long face
- Large ears
- Macro-orchidism
- Mitral valve proplapse
Diagnosis with chorionic villus sampling or amniocentesis
What are the features of Noonan syndrome?
What are the features of Pierre-Robin syndrome?
NB - similar to Treachers Collins but TC is autosomal dominant
What are the features of Prader-Willi syndrome?
What are the features of William’s syndrome?
What are the features of Cri du chat syndrome?
What are the features and complications of Down’s syndrome?
Features:
- Face: epicanthal folds, Brushfield spots, protruding tongue, small low set ears
- Flat occiput
- Single palmar crease
- Hypotonia
- Duodenal atresia
- Hirschsprung’s disease
Complications:
- CARDIAC!!!! - AV septal canal defects, VSD, tetralogy of Fallot, isolated patent ductus arteriosus
- Subfertility
- Learning difficulties
- Respeated respiratory infections
- ALL
- Hypothyroidism
- Alzheimer’s disease
- Atlantoaxial instability
- Otitis media and glue ear
What is the epidemiology of Down’s syndrome?
1/1000 at 30 years, then divide the denominator by 3 for every extra 5 years of age
What are the features of McCune-Albright syndrome?
What are the features of Turner’s syndrome?
What is the Apgar score?
What is the purpose of the Heel Prick (Guthrie) test?
Performed at 5-9 days of life, screening for:
- Congenital hypothyroidism
- Cystic fibrosis
- Sickle cell disease
- Phenylketonuira
- MCADD
- Maple syrup urine disease
- Isovaleric acidaemia
- Glutaric aciduria type 1
- Homocystinuria
What is caput succedaneum and how is it managed?
What is cephalohaeatoma and how is it managed?
What is an Epstein’s pearl and how is it managed?
What is haemorrhagic disease of the newborn?
What causes jaundice in the first 24h after birth?
ALWAYS PATHOLOGICAL
What causes jaundice in 2-14 days?
What causes jaundice after 14 days (or 21 days if premature)?
Must perform jaundice screen involving bilirubin, Coombs test, TFTs, FBC and blood film, urine, U&Es, LFTs
Causes:
- Biliary atresia > raised conjugated bilirubin, requires urgent surgical intervention
- Hypothyroidism
- Galactosaemia- inability to breakdown galactose
- Urinary tract infection
- Breast milk jaundice
- Prematuring
- Congenital infections eg. CMV, toxo
How does coeliac disease present and how is it diagnosed and managed?
Features:
- Associtated with HLA-DQ2 and HLA-DQ8
- Presents around 3y with failure to thrive, diarrhoea, distension, anaemia
Diagnosis:
- Jejunal biopsy shows subtotal villous atrophy
- Anti-endomysial and anti-gliadin antibodies to screen
Management:
- Gluten avoidance
How does Cow’s milk protein intolerance/allergy present and how is it diagnosed/managed?
Features:
- Presents in first 3 months of life in formula fed infants
- IgE and non-IgE mediated
- Regrugitation, vomiting, diarrhoea, atopy, colic sx, wheeze, angioedema
Diagnosis:
- Clinical with elimination diet
- Consider skin prick/patch
- Consider total IgE and specific IgE (RAST) for cow’s milk protein
Management:
1. Formulate fed - eHF or AAF milk
2. Breast fed - mum to eliminate cows milk
How does GORD present and how is it managed?
Features:
- Most common cause of vomiting in infancy
- Presnts as milky vomits and crying after feeding, before 8 weeks
- RF include preterm delivery and neuro disorders
Diagnosis:
- Clinical
Management:
- 30 degree head up during feeds
- Infants to sleep on their back
- Smaller and more frequent feeds
- Thickened formula and alignate therapy
- Specialists can initate medical therapy and fundoplication as last resort