INTRODUCTION: Treacher Collins
Syndrome, also known as Mandibulofacial dysostosis, is a rare genetic disorder characterized by craniofacial deformities .
Craniofacial morphology in Treacher Collins
syndrome affects the way the bones and tissues in the face develop and can mean babies are born without ears, have vision problems andcan require 24-hour care.
Shannon was born with Treacher Collins
Syndrome which causes facial malformations and severe hearing loss.
Choanal atresia can be an isolated anomaly, however 60% cases of congenital defect has found to be associated with Down's and Treacher Collins
syndrome but may be found with other isolated defects such as micrognathia, tracheoesophageal fistula, cleft and high arched palate, missing teeth and facial cleft.
In the latter case, hearing loss can be caused by conditions such as osteogenesis imperfecta, branchio-oto-renal syndrome, orofaciodigital type II syndrome, and Treacher Collins
Prof Mike Dixon - in Nature Medicine - said: "Treacher Collins
is an inherited disorder, so the hope is we could use this method to prevent parents with the condition passing it on to their children."
He had a brain scan which revealed he had Treacher Collins
syndrome, which affects just one in 10,000 births.
CONCLUSION: Treacher Collins
syndrome is an autosomal dominant disorder resulting in abnormalities of structures developing from 1st and 2nd brachial arches.
Craniofacial malformations: intrinsic vs extrinsic neural crest cell defects in Treacher Collins
and 22q11 deletion syndromes.
These devices are also used to reconstruct genetic defects such as cleft palate, Down syndrome, and Treacher Collins
"This will be the first full-length feature horror movie directed by a black, disabled female filmmaker," says Edwards, who has Treacher Collins