The clinical use of a temporal periosteal bone flap for the reconstruction of a malar bone in a patient with the Treacher Collins syndrome is presented. The temporal muscle functions as an axial carrier of the periosteum that induces osteogenesis in young children, whereas the bone segments may serve as a nucleus for further bone formation from the periosteum. Correction of the eyelid coloboma ...

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...

The wide spectrum of craniofacial malformations makes classification difficult. A simple classification system allows an overview of the current understanding of the etiology, assessment, and treatment of the most frequently encountered craniofacial anomalies. Facial dysostoses are reviewed on the basis of their diverse etiology, pathogenesis, anatomy, and treatment. Conditions discussed includ...

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...

Six patients of two families with clinically suspected and genetically proven Treacher Collins syndrome and hearing loss were studied by CT of the temporal bone. The objective of this study was to detect the abnormalities and to show the variation of expression of abnormalities. We found a high incidence of asymmetry in the different ear malformations and a slightly lower incidence of some othe...

Treacher Collins syndrome (TCS) results from defects in a nucleolar trafficking protein (Treacle) coded for by the TCOF1 gene. The purpose of this report is, firstly, to describe an isolated male with TCS associated with macular degeneration who also had a novel TCOF1 gene mutation and, secondly, to evaluate this mutation in a well characterised cohort of 95 patients with age related macular de...

19 T reacher Collins syndrome is an autosomal dominant genetic disorder and affects mainly the head and face. The incidence is estimated to range from 1 in 40 000 to in 70 000 live births. The patients with TCS have usually characteristic bilateral facial anomalies (1). This article reports a case of Treacher Collins syndrome with the presence of genital anomalies and foot abnormality that has ...