Parents bring their infant to see you because their child is not growing normally. There is no family history of note. On examination, he is noted to have a large head relative to the limbs. The limbs are relatively shortened, compared to the trunk.
What is the molecular basis for this condition?
A 3-week-old baby girl is brought to the emergency department due to continuous vomiting. According to the mother, the baby’s vomiting is like a fountain. What is the most suitable investigation to confirm the suspected diagnosis?
A 10-year-old boy is brought to you by his parents due to his three-year history of nocturnal enuresis. Despite attempts at toileting, reducing fluid intake before bed, and implementing a reward system, there has been little improvement. The use of an enuresis alarm for the past six months has also been unsuccessful, with the boy still experiencing four to five wet nights per week. Both the parents and you agree that pharmacological intervention is necessary, in addition to the other measures. What is the most appropriate first-line treatment option from the following list?
Which one of the following is not included in the Apgar score for evaluating a neonate?
A 4-year-old girl is brought to the GP by her father. He has noticed a red rash on the flexor aspects of her knees and on the neck and reports she is constantly trying to scratch. On examination the child appears well. There is evidence of excoriation over red patches of dry skin but there is no crusting or evidence of infection. A diagnosis of eczema is made. What is the first line treatment in a child of this age?
A 10-week-old baby is admitted to the Paediatric Ward by her General Practitioner (GP). She was born at term via normal vaginal delivery after an uncomplicated pregnancy. Her birthweight was 2900 g. Her 20-week anomaly scan was unremarkable. Her parents inform you that a heart murmur was noted at her 8-week check, for which she is awaiting routine outpatient assessment. Her parents report that, over the last week, she has had episodes of going blue during feeds and friends have remarked that she looks ‘off colour’. She had a similar episode while with her GP, and oxygen saturation was recorded at 88% peripherally. As a result, the GP called 999 and transferred her to hospital. She is growing along the 25th centile. On examination, she is alert with normal vital signs. Heart sounds reveal a loud systolic murmur at the lower left sternal edge; she had palpable femoral pulses bilaterally and very slight cyanosis. Her chest is clear, without recession or signs of distress. Her liver is not enlarged.
What is the most likely diagnosis?
A 6-week-old baby girl starts to experience forceful vomiting after every feeding. She had been gaining weight normally prior to this. What is the probable diagnosis?
A premature infant is born at 30 weeks gestation through a spontaneous vaginal delivery. The amniotic fluid did not show any signs of meconium staining. However, the baby develops sternal recession, tachypnea, grunting, and cyanosis shortly after birth. What is the probable diagnosis?
A newborn is delivered via elective Caesarean section at 37 weeks due to pregnancy-induced hypertension. At two hours of age, the male infant is exhibiting mild intercostal recession and grunting. Oxygen saturations are 95-96% on room air. What is the probable reason for the respiratory distress?
A 16-year-old female visits her GP seeking to begin taking the contraceptive pill. The GP takes into account the Fraser Guidelines before approving the prescription. What is one of the requirements that must be met?