A 17-year-old male presented to the OPD with complaints of abdominal pain and diarrhoea. There is a history of pubertal delay. On examination, he has pallor and looks short for his age. Tissue biopsy of the small intestines reveals damaged villi. Which of the following is the most likely cause of this condition?
A 13-year-old girl presents with a swollen left knee following a fall. Her parents state she suffers from haemophilia and has been treated for a right-sided haemarthrosis previously. What other condition is she most likely to have?
A baby born a few days earlier is brought into the emergency with complaints of vomiting, constipation and decreased serum potassium. Which of the following is the most probable cause?
Choose the karyotype associated with short stature:
A 5 year old girl presented with short stature, primary amenorrhea, puffy arms and a webbed neck. The most likely diagnosis will be?
A 2-year-old presented with symptoms of gastroenteritis. Which of the following signs is the strongest indicator for IV fluid administration?
An 11-month old infant was brought by the parents with complaints of poor feeding, failure to thrive, and developmental delay. He was reluctant to play and was unable to sit independently at ten months. Examination revealed blond hair and pale skin with small hands and feet and a squint. He also has poor central muscle tone and unilaterally undescended testes. What is the probable diagnosis of this infant?
A 14-year-old female was found to have a 1/6 systolic ejection murmur on regular check-up and was subsequently referred to a cardiologist. A thorough physical examination reveals long upper extremities with thin slender fingers, with a high arched palate and excessive ligamentous laxity. Her thumb can be bent back easily to touch her radius. ECG reveals sinus bradycardia that is consistent with aerobic conditioning. She also had an echo done. In reference to her most likely diagnosis, which of the following is the most serious cardiac complication associated to this condition?
What are the chances of offspring developing cystic fibrosis if one of the parents, more specifically the mother, is suffering from the disease?
Two healthy parents have two children, one with cystic fibrosis and the other one healthy. What are the chances of the third child being a carrier?