The purpose of this study was to determine rates of divorce in parents of children with various types of craniofacial anomalies and to analyze possible confounding factors. A 29-question survey was sent to parents of all children evaluated in the Craniofacial Centre between 1992 and 1997. Parents were questioned regarding pre- and postnatal marital stability, whether the child's facial anomaly ...

To cite: Holla A, Gonsalves SRJ, Lobo GJ. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-202425 DESCRIPTION A 15-year-old girl was referred to our ophthalmology unit for poor vision in the left eye. She was a diagnosed case of Treacher Collin syndrome (figure 1) and was surgically treated for microtia of the left ear (figure 2). On referral she reported of ...

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, and mutations in the TCOF1 gene are responsible for over 90% of TCS cases. The knowledge about the molecular mechanisms responsible for this syndrome is relatively scant, probably due to the difficulty of reproducing the pathology in experimental animals. Zebrafish is an emerging model for human disea...

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...