Nokea
Recognised features of myotonic dystrophy include:
- A. Phenomenon of anticipation
- B. Muscle pain
- C. Diplopia
- D. Cardiomyopathy
Correct Answer: A
Rationale: The phenomenon of anticipation, where symptoms become more severe or appear at an earlier age as the disorder is passed through generations, is a recognized feature of myotonic dystrophy.
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Regarding cranial nerves:
- A. Meningioma of the olfactory groove may cause unilateral anosmia
- B. Lesion in the geniculate ganglion produces hyperacusis
- C. Frontalis muscle is spared in lower motor neuron facial palsy
- D. In oculomotor palsy, pupillary sparing occurs in early stages of external compression of the nerve by a tumour
Correct Answer: A
Rationale: Meningioma affecting the olfactory groove can compress the olfactory nerve, leading to unilateral anosmia.
Rocker bottom feet and polyvalvular dysplasia are characteristic of which of the following?
- A. Trisomy 19
- B. Trisomy 18
- C. Trisomy 13
- D. Trisomy 21
Correct Answer: B
Rationale: Rocker bottom feet and polyvalvular dysplasia are classic signs of trisomy 18 (Edwards syndrome), a condition that involves multiple congenital anomalies.
The following causes of short stature respond to growth hormone:
- A. Turner's syndrome
- B. Panhypopituitarism
- C. Achondroplasia
- D. Social deprivation
Correct Answer: A
Rationale: Turner's syndrome is a condition that responds to growth hormone therapy. Panhypopituitarism also responds, but Achondroplasia and social deprivation do not.
The most likely diagnosis in the patient described is
- A. persistent pulmonary hypertension
- B. transposition of the great arteries
- C. truncus arteriosus
- D. pulmonary atresia
Correct Answer: B
Rationale: Transposition of the great arteries often presents with cyanosis due to mixing of oxygenated and deoxygenated blood.
Which of the following is least considered to be a normal variant in newborns?
- A. Milia
- B. Neonatal pustular melanosis
- C. Dermal melanocytosis
- D. Infantile acropustulosis
Correct Answer: D
Rationale: Infantile acropustulosis is not considered a normal variant in newborns; it is a rare condition characterized by recurrent pustular eruptions.