Tuesday, July 5, 2011

See A Girl Born Without a Face : Treacher Collins Syndrome

Julianna Wetmore was born with a rare genetic craniofacial disorder known as Treacher Collins Syndrome. This condition normally appears as elongated or sagging eyes and small or missing ears and generally affects 1 in 10,000. Not only is this a rare occurrence but, Julianna has perhaps the most severe case ever seen. The condition was first seen during pre-natal scans where doctors thought that she had a cleft palate. However, the full extent of her disfigurement was not seen until she was born.

Treacher Collins Syndrome is a genetic mutation that prevents the proper formation of the skull, cheek and jaw bones. Julianna's case was so severe she required immediate plastic surgery to uncover her left eye and to open up an airway so that she could breathe.

Dr. Teng a neonatal physician at Shands Jacksonville Medical Centre described Julianna as the worst case he has experienced in his life. Nancy DeBiase a nurse on the ward with Julianna requested a cat scan to check if there was a fully-formed brain inside this mis-shapen skull and was delighted and amazed to discover that there was.

Dr S. Anthony Wolfe, Chief of plastic and reconstructive surgery explained that Julianna's case was due to the presence of the Treacher Collins gene plus another aberrant gene which amplified the effect. These genes affected the embryonic development at an early, probably intra-utero, stage.

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