Paeds: Congential abnormalities and genetic disorders

Question 1

The phenotype consists of learning difficulties, hypotonia, obesity and the urge to eat. What is this condition?

Answer 1

Prader-Willi syndrome

Question 2

Susan, an 11-year-old girl with Down’s syndrome presents to the GP with her mother. She is worried about Susan’s persistent snoring. As well as Down’s syndrome, Susan suffers from asthma, reflux, hyperthyroidism.

Given her past medical history, which of the following may be a causing Susan’s snoring?

Answer 2

Downs syndrome

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Children with Down’s syndrome are prone to snoring

Question 3

A congenital abnormality causing the absence of ganglionic cells in the myenteric and submucosal plexuses. What is this condition here?

Answer 3

Hirschsprung’s disease

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Rectal biopsy is diagnostic

Question 4

A 3-day old baby presents with increasing abdominal distension and one episode of bilious vomiting.

She has not yet passed meconium. What is the most likely diagnosis?

Answer 4

Meconium Ileus due to cystic fibrosis

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Apparently, it isn’t Hirschprungs disease which can present similarly.

I’m guessing the answer is CF because it is just more common than hirschprungs disease

Question 5

A newborn is found to have a number of congenital abnormalities including an extra finger on each hand, a cleft palate and lip, microphthalmia and microcephaly.

Which of the following chromosomes is most likely to be affected in this child?

Answer 5

13: Patau Syndrome

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Trisomy 13

Question 6

Micrognathia. Low-set ears. Rocker bottom feet. Overlapping of fingers. Most likely diagnosis?

Answer 6

Edward’s syndrome (trisomy 18)

Question 7

Short stature. Learning difficulties. Friendly, extrovert personality. Transient neonatal hypercalcaemia. Supravalvular aortic stenosis. Most likely diagnosis?

Answer 7

William’s syndrome