Periocular manifestations of blepharocheilodontic syndrome and their management: case series and literature review.

Abstract

Purpose: Blepharocheilodontic (BCD) syndrome is a rare condition with eyelid ectropion, euryblepharon, lagophthalmos, congenital cleft lip/palate, and oligodontia. BCD syndrome is an autosomal dominant inherited disorder and has multiple associations with systemic diseases. We present three new cases of BCD syndrome and a literature review of the periocular manifestations of BCD and their management.

Methods: A multi-institutional retrospective case series of patients with BCD syndrome. Clinical characteristics, imaging findings, surgical management, and outcomes were analysed. Further, a comprehensive review of the literature identified all previously published cases of BCD syndrome.

Results: Three cases of BCD syndrome in children with autosomal dominant inheritance were included. Periocular manifestations in BCD syndrome include lower lid ectropion, euryblepharon, and lagophthalmos. Systemic manifestations including cleft lip or palate and dental abnormalities were also observed. Multiple surgical procedures including lateral canthoplasty, tarsorrhaphy, and midface augmentation may be necessary for correction of eyelid malposition and achieving cosmetic and functional improvements.

Conclusions: BCD syndrome presents with a spectrum of periocular manifestations requiring multidisciplinary management. Children that present with cleft lip and palate, dental, and eyelid abnormalities should be suspected to have BCD syndrome. Surgical management of the eyelid in BCD remains challenging. Ophthalmologists should be aware of BCD syndrome and its systemic associations.