By Dr Martin D. Timchur DC
Dear all, every year PRO sends out a topical Christmas clinical update on an uncommon disorder. In the past, we have covered Angel-shaped phalango-epiphyseal dysplasia, Christmas disease and this year it is William’s syndrome.
William’s syndrome is a rare neurodevelopmental disorder due to a deletion in the long arm of 7 chromosome (7q11.23) through spontaneous genetic mutation. Rarely there is an autosomal dominant form. It is characterised by a distinctive “Elf-like” facial appearance consisting of a low nasal bridge, puffy lips and cheeks, wide mouth and star shaped iris. Individuals often have an unusually cheerful demeanour and are comfortable with strangers.
The most common symptoms include heart defects (including murmurs and supravalvular aortic stenosis), failure to thrive, low muscle tone, widely spaced teeth, a long philtrum and a flattened nasal bridge. Individuals may also present with GI symptoms, nocturnal enuresis, hypercalcaemia, hypothyroidism (in children) and increased incidence of diabetes. Strabismus occurs in up to 75% of people with WS and they are much more likely to possess perfect pitch.
The neurological effects include abnormalities of the cerebellum, right parietal cortex and left frontal cortical regions, thereby demonstrating visual-spatial disabilities and behavioural timing. This can lead to deficits in fine motor co-ordination, such as writing. They may exhibit hyperreflexia and nystagmus.
From a musculoskeletal chiropractic perspective, individuals may suffer joint hypermobility leading to complications including:
- Pes planus
- Genu valgus
- Synostosis of the radius and ulna
- Patella-femoral syndrome
- Muscle hypotonia
WS is often diagnosed early in life due to observation and investigation of low birth weight, failure to thrive, nocturnal irritability, GORD and heart murmur. The facial characteristics are often recognisable early in development, but congenital heart disease may be the sign leading to the initial diagnosis. A F.I.S.H test is performed to assess the genetic deletions which occurs in 99% of al WS patients. Vitamin D supplementation is contraindicated in WS patients due to narrowing of blood vessels.
Although this is a rare condition with no cure, it is important to recognise the orthopaedic and biomechanical effects of this disorder to ensure chiropractic care is directed towards rehabilitation and suitably altered care plans.
I hope you have enjoyed reading the Christmas edition of PRO’s newsletter. To read last year’s newsletter on Christmas disease, click here 2014 xmas newsletter.
To find out more about PRO’s services and how we may assist you in delivering better patient health outcomes through Chiropractic Radiology reporting, click here.
Have a wonderful holiday.
Dr Martin Timchur DC
Director of Clinical Imaging
Professional Radiology Outcomes
Please access a free PDF version of this case study here: christmas casestudy