Dr.Nilesh Kumar, K20052
Introduction: Anophthalmia plus syndrome is a rare multisystem congenital malformation syndrome, most commonly presenting as Anophthalmia or Severe Microphthalmia with Cleft Lip and/or Palate.
Case Report: A 1-year old firstborn male who was born of a full-term, caesarean delivery with an ante-natal history of varicella zoster infection in mother in first trimester, to non-consanguineous parents was brought to Ophthalmology OPD with chief complaints of absence of eyeballs in both sockets, and bluish mass in the lower eyelids of both sides, more prominent on the right side. He has a history of Unilateral cleft lip and palate with lip repair done 6 months back. Bilateral empty orbits with remnants of conjunctiva and soft tissues, Bilateral cystic bluish mass in the lower eyelids of both eyes (right being more prominent),with Bilateral mid-facial hypoplasia and cleft palate with ill-formed dentures, and a healed scar on the upper lip. MRI Scan showed cysts in both the orbits
Leave a Comment