Skeletal surgery for mandibulofacial dysostosis (Treacher Collins, Nager Syndrome)

Mandibulofacial dysostosis (Treacher Collins syndrome): a case report.

Mandibulofacial dysostosis, also known as Treacher Collins syndrome, is a rare congenital anomaly that must be identified in infancy to prevent irrevocable developmental impairment. Information is sparse in the current medical literature concerning this rare syndrome. This article reports a case of Treacher Collins syndrome with the presence of a scarring alopecia and acne keloidalis nuchae, wh...

Mandibulo-facial dysostosis (Treacher Collins syndrome).

Mandibulo-facial dysostosis has been described with increasing frequency in recent years. Once known it is readily recognized and may be more common than is sometimes imagined. We describe in this article a case seen in a newlyborn infant who died at the age of 21 months and in whom careful dissections were made of the facial region. The infant (A.R., 456/1954) was admitted to the Royal Aberdee...

Treacher Collins Syndrome

Treacher Collins syndrome (TCS) is a genetic disease that alters the development of bones and other tissues in the face, and presents variable expressivity. At least three genes TCOF1, POLR1D, and POLR1C were recognized to be at the origin of this syndrome which may be inherited through either an autosomal dominant or autosomal recessive pattern. TCS changes can be divided into otological, opht...

Ear surgery in Treacher Collins syndrome.

The autosomal dominant hereditary Treacher Collins syndrome manifests itself phenotypically in dysmorphogenesis of particularly the first, but also the second branchial arch system. Consequently, 50% of patients with Treacher Collins syndrome have a congenital, generally pure conductive hearing loss resulting from a major or minor ear anomaly. The outcome of surgery to improve patients' hearing...

Treacher Collins syndrome: sinus of Valsalva aneurysm.