Q:

An 8 month infant presented with FTT (failure to thrive) and constipation. Examination: large tongue and fam history of prolonged neonatal jaundice. What is the most likely diagnosis?

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An 8 month infant presented with FTT (failure to thrive) and constipation. Examination: large tongue and fam history of prolonged neonatal jaundice. What is the most likely diagnosis?


  1. Downs syndrome
  2. Fragile X syndrome
  3. Praderwilli syndrome
  4. DiGeorge syndrome
  5. Congenital hypothyroidism

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The key is E. Congenital hypothyroidism. [Congenital hypothyroidism (CH) is inadequate thyroid hormone production in newborn infants. It can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency. FTT (failure to thrive), constipation, macroglossia, prolonged neonatal jaundice these are well known features of congenital hypothyroidism].

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