paeds581
A 5 year old girl presented with short stature, primary amenorrhea, puffy arms and a webbed neck. The most likely diagnosis will be?
Archives: MRCPCH FOP/TAS
paeds582
A boy with Duchene muscular dystrophy and healthy parents is expecting a new brother. What are the chances that his brother develops the same disease after birth?
paeds583
A pregnant woman that already has a son with haemophilia A, wants to know the chances of her next unborn child having the same condition.
paeds584
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?
paeds585
What are the chances of offspring developing cystic fibrosis if one of the parents, more specifically the mother, is suffering from the disease?
paeds586
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?
paeds587
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?
paeds564
A 15-year-old girl presents with severe abdominal pain radiating to her back and vomiting. Her vitals are as follows: Heart rate: 200 bpm and BP: 100/45 mmHg. On examination there is tenderness and guarding in the upper abdomen. Blood investigations reveal:Hb: 13.4 g/dLWBC Count: 16,000 cells/mm3Platelet count: 2,53,000 cells/mm3Na+: 140 mEq/LK+: 3.5 mEq/LCreatinine 6.4 mg/dLUrea 90 mg/dLBilirubin 2 mg/dLAlbumin: 4.2 mg/dLAmylase: 800 IU/L AST: 12 IU/L ALT: 16 IU/LWhat is the most probable diagnosis?
paeds565
A 16-year-old boy with iron-deficiency anaemia is found to have numerous polyps in his jejunum. On examination, he is also noted to have pigmented lesions on his palms and soles. What is the most probable diagnosis?
paeds566
A child defecates a few minutes after being fed by the mother. This is most likely due to: