Paediatrics Flashcards
Which of the following chromosomal abnormalities indicates Turner Syndrome? A) 46 XY B) 47 XXY C) 45 XX D) 45 X E) 45 Y
D) 45 X
Which of the following chromosomal abnormalities indicates Klinefelter Syndrome? A) 46 XY B) 47 XXY C) 45 XX D) 45 X E) 45 Y
B) 47 XXY
Give 6 changes or anomalies which might lead you to suspect T21 in an infant.
Craniofacial changes: round face, flat nasal bridge, upslanted palpebral fissures, epicanthic folds, brushfield spots in the iris, small mouth, protruding tongue, small ears, flat occiput and third fontanelle.
Medical anomalies: hypotonia, congenital heart disease, duodenal atresia, Hirschsprungs Disease.
Other changes: single palmar crease, I curved 5th finger, wide sandal gap.
What is the cardinal feature of the chromosomal abnormality 45, X?
Short stature (Turner Syndrome).
What is the most common presenting feature of the chromosomal abnormality 47, XXY?
Infertility (Kleinfelter Syndrome)
Which of the following conditions is inherited in an autosomal dominant manner? A) Cystic Fibrosis B) Down Syndrome C) Achondroplasia D) Sickle Cell disease E) Friedrichs Ataxia
C) Achondroplasia
B) T21
A, D and E all autosomal recessive
Which of the following conditions is inherited in an autosomal recessive manner? A) Congenital Adrenal Hyperplasia B) Ehlers-Danos Syndrome C) Huntington’s Disease D) Marfan Syndrome E) G6PD deficiency
A) Congenital Adrenal Hyperplasia
B, C and D are autosomal dominant inheritance.
E) X linked recessive inheritance
Which of the following conditions are inherited in an X-linked recessive manner? A) Myotonic Dystrophy B) Haemophilia A C) Polyposis Coli D) Tay-Sachs Disease E) Phenylketonuria
B) Haemophilia A
A and C are autosomal dominant
D and E are autosomal recessive
A woman is a known carrier of the Duchenne muscular dystrophy (DMD) genetic mutation. Her and her partner are now expecting their first child.
Ai) what mode of inheritance is present in this condition and illustrate this with a diagram.
Aii) If they have a son what is the likelihood he will be affected by or be a carrier of the condition?
Aiii) If they have a daughter what is the likelihood she will be affected by or be a carrier of the condition?
B) Which muscles are commonly the first to be affected in children with DMD?
C) In toddlers with DMD, which muscles may undergo pseudo-hypertrophy?
D) What is the life expectancy of individuals affected by this condition?
Ai) X-linked recessive inheritance
Aii) 50% chance of being affected, 0% chance of being a carrier
Aiii) 0% chance of being affected, 50% chance of being a carrier
B) muscles of the hips, thighs and shoulders
C) the calf muscles
D) in males with DMD, 20 years is the normal life expectancy.
Which clinical syndrome features failure to thrive in infancy but then obesity in later childhood, excessive appetite, small hands and feet and developmental delay?
Prader-Willi Syndrome
Give some of the main aims of genetic counselling.
To help a patient understand their situation.
To guide their decisions regarding the managment of the disease, risks of it occurring and whether other family members may want to be tested
It adjust their situation due to the risk of being affected by the condition
Give two of the physical features of foetal alcohol syndrome.
Two from…
saddle shaped nose, maxillary hypoplasia, absent philtrum, short and thin upper lip.
Which of the following is the most common congenital infection? A) Rubella B) CMV C) Toxoplasmosis D) Parvovirus E) Varicella zoster
B) CMV
All the others can cause congenital infections but CMV is the most common, affecting 3-4/1000 live births in the UK.
A baby is born and at 5 minutes is exhibiting the following... - HR <100bpm - regular, strong cry - well flexed, active limbs - cry and cough - body pink, extremities blue What is it's APGAR score at this stage?
8/10
1 for HR <100bpm and body pink, extremities blue
2 for everything else
15a) In foetal circulation which structure does the majority of the blood from the right ventricle flow through?
b) Is this blood oxygenated or deoxygenated?
c) What other structure within the foetal heart allows blood to move from the right to the left side?
d) In the foetus, is the pulmonary vasculature constricted or dilated?
e) The ductus venosus allows blood from the left umbilical vein to bypass which structure?
f) In adults, which structure is formed from the remnants of the ductus venosus?
a) The ductus arteriosus
b) oxygenated
c) The foramen ovale
d) Constricted
e) the liver
f) the ligamentum venosum
‘A common rash appearing at 2-3 days of age consisting of white pinpoint papules at the centre of an erythematous base’ describes which skin lesion that affects newborns?
Neonatal uticaria (aka erythema toxicum)
A newborn infant is noted to have a tuft of hair over their lumbar spine. What condition might this indicate?
Spina bifida
Which two manoeuvres are used to test for developmental dysplasia of the hip and what do they do?
Barlow manoeuvre: dislocates the hip posteriorly from the acetabulum
Ortolani manoeuvre: dislocated hip is relocated into the acetabulum
