Trisomy 21, a consequence of advanced maternal age

K.M, a 1 year and 9 month old male child from Mwanza was referred from Bugando Hospital to Muhimbili National hospital for further investigations and management. He presented with gradual onset of dry recurrent cough and difficulty in breathing for 20 months and low grade recurrent fever for 9 months. His mother was 43 years and father 45 years old. On examination he was alert, febrile (38.5oC), acyanotic, with up-slanting eyes, low set ears, flat nose-bridge, small chin, short neck, pigeon chest and webbed toes. He was malnourished with delayed developmental milestones. A pansystolic murmur was auscultated at the lower left sternal edge; and he had impaired speech, reduced muscle bulk and muscle tone with muscle power of grade 3.