BACKGROUND : Management of patients with Treacher Collins syndrome is complicated and involves multiple disciplines working in concert to achieve a common outcome. This article reviews the experience at the Australian Craniofacial Unit and describes the protocol for management. METHODS : Fifty patients were treated during the last 30 years. The records of these patients were reviewed to estab...

OBJECTIVES To document the incidence of difficult intubation following mandibular distraction osteogenesis (MDO) in children with severe mandibular hypoplasia. BACKGROUND Syndromes associated with significant mandibular hypoplasia, especially Pierre Robin sequence, provide a challenge in airway management both in and out of the operating room. Mandibular advancement using mandibular distracti...

The gene mutated in Treacher Collins syndrome, an autosomal dominant disorder of facial development, has recently been cloned. While the function of the predicted protein, Treacle, is unknown, it has been shown to share a number of features with the highly phosphorylated nucleolar phosphoproteins, which play a role in nucleolar-cytoplasmic transport. In the current study, the murine homologue o...

Treacher Collins syndrome (TCS) is an inherited developmental disorder. More than 40% of individuals with TCS have conductive hearing loss attributed to external and middle ear anomalies. Mild cases of TCS often pass undiagnosed at birth or early childhood. The disease may be manifested as conductive hearing loss in teenagers and may resemble juvenile otosclerosis. Patients could suffer from sl...

INTRODUCTION: Treacher Collins (TC) and Robin Sequence (RS) are both associated with hypoplastic, retrognathic mandible, glossoptosis, and airway obstruction. Bilateral Mandibular Distraction Osteogenesis (MDO) has been used successfully [1] in the past two decades [2] to treat severe airway obstruction and provide a way of enabling successful removal of tracheostomy in the RS population [3]. T...

Treacher Collins syndrome is characterized by the congenital hypoplasia of the zygomatic and mandible bones. It is a syndrome with a concise clinical presentation and mostly surgical treatment. Pierre Robin disorder, on the other hand, is a sequence and not a syndrome, i.e., in Pierre Robin sequence, micrognathia leads to glossoptosis. Glossoptosis, on the other hand, is responsible for the air...