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Craniofacial web resources
The ACQ Internet Column: June 2000
Caroline Bowen
 

How basic is this!
Thoughts about the fundamental importance of having an intact anatomy for speech production have been running around my head for weeks. For the themes of this edition of the ACQ (the face, teeth, tongue and palate) take us directly to our speech therapy roots, making us think in the most uncomplicated of ways about the organs of speech: how they look and what they do. How basic it is when we meet new clients to start the assessment process by taking a covert but informed squiz at their faces. With a quick flash of the oral torch we invite ourselves to an inside tour of what they keep behind closed lips: you know, the teeth the fairy hasn't claimed yet, the tongue: thrusting, tied, or just plain big, and the palate (I'll get to that shortly)...all that sort of thing. 

 
But sometimes the oral musculature examination is deferred when we encounter for the first time a client whose facial features, in themselves, tell us much of what we need to know, and prompt us to reach for the journals to see if there is anything helpful or new for the client and clinician regarding Treacher Collins Syndrome, Velo-Cardio Facial (Shprintzen) Syndrome (here), Craniosynostosis, or one of the myriad of other conditions and diseases listed in the NORD databases. NORD is the only organization of its kind; a unique federation of more than 140 not-for-profit voluntary health organizations serving people with rare disabilities. Its web site receives more than 5 million hits each year and over 1 million searches of its databases are made annually. 
 

I recognise your face from somewhere...
With faintly satisfied smirks on their famously photogenic faces, veteran BBC interviewer Michael Parkinson and singer and song writer Paul McCartney touched upon the topic of being instantly recognisable. Emphasising his connectedness with a Liverpool working class population, Paul told a well-seasoned story against himself - and a funny one at that! But it is hard to think of a funny anecdote for a person to tell about the times their face has been instantly identified with a special "craniofacial" population. Funny stories, no...but poignant stories, inspirational stories, brave stories...NOW you're talking. Take, for example, the story of Kristi Branstetter, an expert on arhinia.  

Kristi writes: "I was born with congenital total arhinia (complete absence of the nose). I look at life like this: Things could be worse...I feel good about myself most of the time... I prefer to be around people with positive attitudes so I can maintain my own positive attitude... some people are intimidated by my appearance...most people are accepting. Those who reject me just don't become a part of my life and do not to get to know me as a person". Read more about Kristi here.
 
Searches
Web searches uncover a variety of useful resources including www.cleftline.org, and Peter Flipsen Jr's Cranio-Facial Anomalies links. 
   
Tongue in cheek
With several copy deadlines looming the temptation to drift off into (irrelevant) cyberspace was easy to resist while assembling these links. However, my attention deficit did click in for a second when I spotted The Tooth Fairy: A Sceptical Analysis by Adrian Barnett. I mean, who could resist Adrian's bio that included the news that he is not only an atheist, sceptic, and owner of three cats and a thousand fleas, but also the world's two-billionth greatest lover? 
 
Tongue-tie
Someone else with a fascinating profile that I've met on my Internet travels is Evelyn Jain, a family physician and lactation specialist in Calgary, Canada. Evelyn was already the mother of three daughters when she started medical school "later in life", to use her expression. She has been in Family Practice for a decade and has a very busy breastfeeding clinic. Finding that there were babies who could not latch well even with the best of maternal and professional efforts she started clipping tight frenula in 1990, documenting excellent results. Dr Jain describes the surgery as a simple and safe procedure that is necessary when the tongue movements in, out, and upwards are limited. As a Clinical Assistant Professor at the Faculty of Medicine she was instrumental in getting lactation established as part of the regular academic and clinical curriculum at the University of Calgary. In 1998 she won a National Award of Excellence in Family Practice for her innovative work in breastfeeding, particularly regarding infant tongue-tie. 
 
Family ties
Evelyn is looking forward to addressing the Australian lactation Consultants Conference in Melbourne in October 2000 on the topics of Tongue-Tie and Breast Reduction Surgery and their management in the breastfeeding period. She is also eagerly anticipating seeing her daughter Kamini Jain compete in the kayak races at the Sydney Olympics as a member of the Canadian National Team. 
 
Guess what?
Finally, here's a challenge that stumped everyone, including me. In 12 words or less:  what are the most obvious unifying characteristics of the tongue, salivary glands and diaphragm? The answer can be found on page 72 of the June 2000 ACQ. 
 
Velo-Cardio-Facial Syndrome Links
22q deletion, chromosome 22q11.2 deletion, Shprintzen syndrome, DiGeorge syndrome
 22q11 deletion syndrome 
Development and Neurobiology
VCFS FAQ
Health Report 
VCFS Information
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