A 28 year old primigravida gives birth to a full term female baby through vaginal delivery. The baby cried immediately after birth. On examination, the baby was small for gestational age. Widespread reddish blue papular lesions where present on the skin. There was microphthalmia, bilateral cataracts and hepatosplenomegaly. Investigations reveal anemia, conjugated hyperbilirubinemia, bilateral deafness and patent ductus arteriosus.
The mother did not have regular antenatal check-ups or investigations. What is the most probable diagnosis? How can it be confirmed? Source: Shetty G et al. Indian J Paediatr Dermatol 2013.
