Waardenburg or Blepharophimosis ptosis epicanthus inversus syndrome? – An enigmatic riddle

Abstract

Waardenburg syndrome (WS) is a genetic disorder that may be discernible right at birth. The syndrome is well known to have heterogeneous expression; the range, and severity of which may vary greatly from case to case, even among the individuals of the same household. Here, we report a 19-year-old female who was initially diagnosed as a case of Blepharophimosis ptosis epicanthus inversus syndrome (BPES) and referred to our subspecialty clinic for undergoing surgery. On examination, she had medial canthal dystopia, telecanthus, synorphys, and similar facial features in a first-degree family member. These features were suggestive of WS. After that, the primary diagnosis was revised; systematic evaluation was performed, surgical correction for her telecanthus was ventured with a favourable outcome. Both WS and BPES may present with similar facial features and thereby pose a clinical dilemma. Such misdiagnosis may hinder proper evaluation and management of any underlying systemic associations.