Pierre Robin Syndrome and a Subglottic Mass in a Patient with Bruck Syndrome: An Unusual Presentation of an Extremely Rare Condition

Abstract:

The phenotypic spectrum of Bruck syndrome has broadened since its first description. Besides its orthopedic manifestations, other findings such as myopathy or cardiac disease have been reported in previous studies. A case is presented with Pierre Robin syndrome and subglottic mass. Because of the clinical picture of congenital high airway obstruction syndrome, emergency tracheotomy was performed upon delivery. An excisional biopsy under direct laryngoscopy was done later. The patient died of congestive heart failure when 8 months old. In conclusion, Bruck syndrome types 1 and 2 may not be phenotypically equivalent and there may be unexpected upper respiratory system findings.