Triple trouble: Congenital nasolacrimal duct obstruction, cleft palate, and sensorineural hearing loss - A rare association of blepharophimosis-ptosis-epicanthus inversus syndrome

Abstract

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is autosomal dominant disorder affecting 200 families worldwide. It is marked by bilateral ptosis with poor levator function, shortened horizontal palpebral fissures, and epicanthus inversus. We report a case of 7-month-old female child who presented to us with watering of both eyes since birth and failure to thrive. Examination revealed peculiarities of BPES with bilateral congenital nasolacrimal duct obstruction (CNLDO) and associated findings of bilateral sensorineural hearing loss (SNHL) and cleft palate. Initially, conservative management followed by probing, cleft palate correction, and V-Y plasty was advised and ptosis correction planned at later age. There are several ocular and nonocular associations with BPES, but CNLDO, cleft palate, and SNHL together have never been reported to the best of our knowledge.

Keywords

• blepharophimosis-ptosis-epicanthus inversus syndrome
• congenital nasolacrimal duct obstruction
• sensorineural hearing loss