paeds597
A neonate has bilateral cleft palate, clenched hands with overlapping fingers, ventricular septal defect, and rocker bottom feet. What is the most likely diagnosis?
Archives: MRCPCH FOP/TAS
paeds598
A new-born baby is noted to have low-set ears, rocker-bottom feet and overlapping of her fingers.What is the most likely diagnosis?
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?
paeds569
A 12-year-old boy was admitted with profound diarrhoea and low urine output. His mucous membranes seem dry and his skin turgor is low. What is the most appropriate next step?
paeds580
Choose the karyotype associated with short stature:
paeds581
A 5 year old girl presented with short stature, primary amenorrhea, puffy arms and a webbed neck. The most likely diagnosis will be?