Branchio-oculo-facial syndrome
Overview
Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.
Symptoms
* Mental retardation * Prenatal growth deficiency * Postnatal growth deficiency * Low birth weight * Atrophic branchial skin lesion
Diagnosis
An interesting finding is that, thymic tissue at the skin appears to be unique of B.O.F.S and in any given case may provide clue to the diagnosis of this syndrome.13 High index of suspicion especially when patients have mild expression, like the one in our cases (case 3) helps in proper diagnosis and in appropriate genetic counseling.14