Archives: MRCPCH FOP/TAS

paeds593

A 3 year old male presents to the genetics clinic with a history of proximal myopathy. He has missed motor milestones and has pseudohypertrophy of the calves. Doctors suspect it might be Duchenne’s muscular dystrophy. Which of the following should you advise the parents?

paeds594

A family of five members presents to the genetics clinic for further evaluation. The father, one boy and one girl present with a short stature, large heads, short digits, and trident hands. Genetic evaluation reveals they are all heterozygotes for a specific mutation. The rest of the family, the mother and the other daughter, do not carry this mutation. What is the pattern of inheritance?

paeds595

A healthy male who has a brother with cystic fibrosis. His wife, who has no family history of cystic fibrosis, wants to know their chance of having a child affected by cystic fibrosis.What is the best estimate of the risk if the population carrier rate of cystic fibrosis is 1 in 25?

paeds596

A mother brings her 4-year-old boy who is known to have Down’s syndrome to the outpatient clinic as she is concerned about his vision. Which one of the following eye problems is least associated with Down’s syndrome?

paeds599

A new-born infant has a posterior displacement of the tongue and cleft palate.What is the most likely diagnosis?

paeds600

A 13-year-old boy presents to the hospital with a history of multiple episodes of generalized tonic-clonic seizures for the past week. Prior to this, he has had multiple admissions for the same reason and has been on anti-epileptic drugs since the age of 11 months with poor control. He was born of non-consanguineous parents with an uneventful birth history. There is no history of seizures in other family members. On examination, he has multiple hyperpigmented papules over the nasolabial region suggestive of adenoma sebaceum. A full body examination revealed a total of 5 hypopigmented ash leaf macules over the lower limbs along with a shagreen patch over the lateral aspect of the left buttock. The mode of inheritance of the boy’s condition has a pattern similar to that of:

paeds601

A 10-month-old girl is brought to the hospital with a history of atrial septal defect and duplex kidneys and has had a successful repair of her cleft lip and palate. A cranial ultrasound scan revealed multiple choroid plexus cysts. On examination, you find a small child with micrognathia, low-set ears, and a prominent forehead and occiput. She has hypoplastic nails with an overlapping index and middle finger. Her rocker-bottom feet show no evidence of lymphoedema. Cardiovascular examination reveals a short sternum with a 2/6 pan-systolic murmur at the upper left sternal edge radiating to the apex. Which of the following is the most probable diagnosis for this patient?

paeds602

An infant under investigation for persistent jaundice has a systolic murmur consistent with pulmonary valve disease. Ophthalmological assessment reveals a posterior embryotoxon.Which of the following skeletal abnormalities is to be considered in this child?

paeds603

Which among the following genetic conditions, does NOT present with cataracts?