Paeds Flashcards
Tetralogy of Fallot (TOF)
Ventricular septal defect (VSD)
Right ventricular hypertrophy
Right ventricular outflow tract obstruction, pulmonary stenosis
Overriding aorta
Edward’s syndrome
Trisomy 18 Small head, jaw (micrognathia), low set ears Rocker bottom feet Clenched fists with overlapping fingers Second most common trisomy after Down's
Fragile X
X-linked dominant, expansion of CGG triplet in FMR1 gene on the X chromosome Average IQ<55 Macrocephaly, long and narrow face Large ears, large testicles Hyperactivity and seizures Complication: mitral valve prolapse
Noonan syndrome
Autosomal dominant Webbed neck Pulmonary valve stenosis Breast bone could be protruding or be sunk Scoliosis
Patau syndrome
Trisomy 13 Small eyes Cleft lip/palate Weird things like polydactyly, cyclopia Scalp lesions Rocker-bottom feet
Pierre Robin syndrome
A chain of certain developmental malformations, one entailing the next Facial abnormalities: 3 main ones Micrognathia Glossoptosis Upper airway obstruction (Cleft palate)
Prader-Willi syndrome
(Neonatal) Hypotonia
Hypogonadism
Obesity
Williams syndrome
Deletion in chromosome 7 Mild to moderate intelectual disability Outgoing personality Elfin-like face Supravalvular aortic stenosis High Ca (transient neonatal)
Haemophilia A, B MOI
X-linked recessive
6-1 vaccine
Diphtheria Tetanus Whooping cough Polio Hib Hep B
Right to left shunts
TOF
Transposition of the great arteries
Present with cyanosis
Left to right shunts
ASDs
VSDs
PDA
Causes of stridor
Croup
Acute epiglottitis
Bacterial tracheitis
Cytomegalovirus congenital infection
Most common in the UK
Growth retardation
Purpuric skin lesions
Sensorineural deafness
Encephalitis/seizures
Pneumonitis
Toxoplasmosis congenital infection
Cerebral calcification
Chorioretinitis
Hydrocephalus
Anaemia
