1st September 2020

You perform a Newborn and Infant Physical Examination (NIPE) on a baby boy, born 12 hours earlier

You perform a Newborn and Infant Physical Examination (NIPE) on a baby boy, born 12 hours earlier. You notice that there is reduced muscle tone, and that the baby has unusually small eyes, as well as a cleft lip. The baby is referred for further investigations for a genetic disease – karyotyping reveals the baby has three copies of the chromosome 13.

For the patient above, please select the SINGLE most likely diagnosis. Select ONE option from the list above.