Skeletal

Last Updated on Sunday, 15 November 2015 15:19
Published on Saturday, 18 July 2009 10:49
Hits: 6013

The Gorlin syndrome gene has an effect on the development of the skeletal system. This does not progress throughout life and usually causes no ill effects as all.

Principally affected are the height, the shape of the ribs, the shape of the bones in the vertebral column, and the shape of the skull.

Height - people with Gorlin syndrome can be much taller than expected for their family.

The shape and size of the skull is usually larger than average (usually over 60 cm in adults) - some people have difficulty in gettings hats. The front of the skull and the forehead may be very prominent, the bone being especially protruberant (swelling or bulge) above and over the outer parts of the eyes (this is called 'frontal and parietal bossing'). A large proportion of babies with Gorlin Syndrome require delivery by Caesarian Section because of the large head size.

Ref: Neviod Basal Cell Carcinoma Syndrome. Synonyms: Basal Cell Nevus syndrome (BCNS), Gorlin syndrome, NBCCS. D Gareth Evans, MD, FRCP and Peter A Farndon, MD, FRCP Gene Reviews 20301330 Mar 2013

To see full article see Gene Reviews

Next Review January 2017

Information Standard Logo small strip