Miscellaneous

Question 1

Cleft palate Epicanthic folds Short nose Anteverted nostrils Long philtrum with thin vermilion border Learning difficulties Congenital heart disease

Answer 1

Fetal valproate syndrome

Question 2

Cleft palate Micrognathia Glossoptosis Airway obstruction

Answer 2

Pierre Robin syndrome

Question 3

Cleft palate thin wiry hair Fiar skin Microdontia Developmental delay Urinary tract abnormalities

Answer 3

EEC syndrome (ectodermal dysplasia, ectrodactyly, cleft palate)

Question 4

Haemoglobinopathy result in beta thalassaemia major

Answer 4

Minimal or absent HbA Small amount of HbA2 Large amount of HbF

Question 5

X-ray features of Ewing’s tumour

Answer 5

Sunburst speculated periosteal reaction

Question 6

Treatment of choice for pubic lice

Answer 6

Permethrin

Question 7

Diagnosis?

Answer 7

Candlewax calcification

= tuberous sclerosis

Question 8

Features of PELVIS syndrome

Answer 8

Perineal haemangiomas

External genital malformations

Lipomyelomeningocoele

Vesico-renal abnormalities

Imperforate anus

SKin tags

Question 9

Diagnosis?

Answer 9

Intussusception

Question 10

Presents as severe encephalopathy with myoclonic seizures, rapidly progressive, metabolic investigations all normal, often associated with hiccupping

Answer 10

Non ketotic hyperglycinaemia

Question 11

Abnormalities to look for if hypospadias found

Answer 11

cryptorchidism

Chordee

Redundant dorsal hood

Inguinal herniae

Question 12

Features of gelastic epilepsy

Answer 12

Seizures associated with laughing

Hypothalamic hamartoma or astrocytoma

Question 13

Features of panayiotopoulos syndrome

Answer 13

Autonomic symptoms

Vomiting

2/3rds occur in sleep

Long lasting seizures

Question 14

Features of PHACE syndrome

Answer 14

Posterior fossa abnormality

Haemangioma

Arterial lesions

Cardiac anomalies

Eye abnormalities

Question 15

Threshold to give bicarbonate in DKA

Answer 15

pH ≤7

Question 16

Features of Zellweger syndrome

Answer 16

Dysmorphic features

Sensorineural deafness

Peripheral neuropathy

Hepatocellular degeneration

Elevated very long chain fatty acids

Question 17

Diagnosis if there is excess secretion of heparan and dermatan sulphates in urine

Answer 17

Mucopolysaccharidosis type 1

Question 18

Features of linear morphea

Answer 18

Atrophic linear plaque

May have concomitant headaches or seizures

Question 19

Antiepileptic causing cerebellar symptoms in toxicity

Answer 19

Phenytoin

Question 20

Denys-Drash triad

Answer 20

Nephropathy

Interse genital abnormalities

Wilms’ tumour

Question 21

Distinguishing feature between Bartter and Gitelman syndromes

Answer 21

Bartter - normal or high urinary calcium

Gitelman’s - low urinary calcium and magnesium

Question 22

Features of Ellis van Creveld

Answer 22

Distal shortening of the limbs

Polydactyly

ASD

Question 23

Features of Rothmund Thompson

Answer 23

Skin changes from 3 months: plaques of erythema and oedema, which gradually become hyperpigmented and telangiectatic, often in light sensitive areas

Short stature

Frontal bossing

Sparse hair with dystrophic nails

Question 24

Features of junctional epidermolysis bullosa

Answer 24

Severe blistering

Non-Herlitz - associated with pyloric atresia

Question 25

Features of epidermolysis bullosa simplex

Answer 25

Koebner - mild blistering with mucosal involvement, blisters from birth, involves hands and feet Weber-cockayne - localised to hands and feet, presents when the child begins to walk

Question 26

Treatment for Menkes

Answer 26

Copper sulphate

Question 27

Treatment for adrenoleukodystrophy

Answer 27

Steroids for adrenal insufficiency Diet low in very long chain fatty acids Lorenzo's oil

Question 28

In which genetic condition is allopurinol helpful?

Answer 28

Lesch-Nyhan

Question 29

Treatment for Wilson's disease

Answer 29

D-penicillamine Liver transplantation

Question 30

Mechanism of bosentan

Answer 30

Endothelin receptor antagonist

Question 31

Mechanism of action of sildenafil

Answer 31

PDE5 inhibitor

Question 32

Triad of Klippel-Trelauney

Answer 32

Port wine stain Varicose veins bone/soft tissue hypertrophy

Question 33

Mechanism of metoclopramide

Answer 33

Dopamine receptor antagonist with 5HT3 antagonist activity in high doses

Question 34

Mechanism of cyclizine

Answer 34

Antimuscarinic agent with some antihistamine activity

Question 35

Mechanism of nabilone

Answer 35

Cannabinoid receptor agonist

Question 36

Mechanism of ondansetron

Answer 36

5HT3 antagonist

Question 37

Inheritance of Angelman syndrome

Answer 37

Uniparental disomy

Question 38

Inheritance of tuberous sclerosis

Answer 38

Autosomal dominant

Question 39

Features of Hall-Pallister syndrome

Answer 39

pituitary absence hypothalamic hamartoblastoma postaxial polydactyly nail dysplasia bifid epiglottis imperforate anus anomalies of the heart, lungs, and kidney

Question 40

Features of holoprosencephaly

Answer 40

Most severe of neuronal migration defects cyclopism or cebocephaly (hypotelorism plus fused nostrils) or occasionally a variety of chromosomal defects

Question 42

Urine that smells of sweaty feet

Answer 42

Isovaleric acidaemia Glutaric acidaemia type II

Question 43

Urine that smells like a swimming pool

Answer 43

Hawkinsinuria

Question 44

Urine that smells like maple syrup

Answer 44

Maple syrup urine disease

Question 45

Urine that smells like boiled cabbage

Answer 45

Hypermethioninaemia or tyrosinaemia

Question 46

Urine that smells like hops

Answer 46

Oasthouse urine disease

Question 47

Urine that smells mousy/musty

Answer 47

P|KU

Question 48

Urine that smells like rotting fish

Answer 48

Trimethylaminuria

Question 50

Features of Pyknodysostosis

Answer 50

Increased skeletal density Postnatal short stature Generalised hyperostosis Short limbs Deformed nails

Question 51

Features of Hallerman Streiff syndrome

Answer 51

Developmental delay Ocular problems e.g. cataracts, nystagmus Abnormal mandibular development

Question 52

TFTs in Hashimoto's

Answer 52

Low T4, high TSH

Question 53

TFTs in Grave's

Answer 53

High T4, low TSH

Question 54

Commonest cause of pneumonia in infants

Answer 54

Staphylococcal

Question 55

Most common syndrome associated with Pierre Robin

Answer 55

Stickler syndrome