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Joubert syndrome

Joubert syndrome is a rare genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterized by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem. The most common features include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia. Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. There may be mild or moderate retardation. more...

Jackson-Weiss syndrome
Jacobs syndrome
Jacobsen syndrome
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Johnson Munson syndrome
Joubert syndrome
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Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some patients. Infants with abnormal breathing patterns should be monitored.

The prognosis for individuals with Joubert syndrome varies. Some patients have a mild form with minimal motor disability and good mental development, while others may have severe motor disability and moderate mental retardation.

Two genes that are mutated in individuals with Joubert syndrome have been identified. Mutation in gene of unknown function called AHI1 is associated with the majority of Jourbert syndrome cases. In cases where an individual has Joubert syndrome with progressive kidney disease to a gene called NPHP1 is mutated in addition to AHI1.


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RUGBY UNION: Krige puts Springbok sins in the past to lead Saints to
From Independent, The (London), 9/4/04 by Chris Hewett

WHEN THE South African flanker Corne Krige arrived in Northampton a few days ago, he was not convinced he would receive the warmest of welcomes. Not because he had left his calling card on half a dozen English bodies during a Hammer Horror of a Test match at Twickenham during the autumn of 2002, or because he had served in high office during the Springboks' gung-ho preparations for last year's World Cup - a build-up that veered from the bovine to the pornographic and back again - but because he had been asked to captain his new club, without paying so much as a single due.

"It is true to say that I was nervous about my reception," Krige admitted this week, minutes after being confirmed as captain on a full-time basis. "Having arrived in England on the Sunday, it was quite something to find myself captaining the side in an important pre-season match six days later. The thought crossed my mind that the supporters here, who obviously know their rugby, might think: `Hey, who the hell does this guy think he is?' As it turned out, I was made to feel at home immediately. I was moved by it, definitely."

In the annual competition for signing of the season, the 2004-05 contenders are many and varied. Newcastle have Matthew Burke, the grand Wallaby full- back, among their number; Leeds have picked up the will-o'-the-wisp strike runner Iain Balshaw from Bath; Gloucester and Sale have recruited big, nasty Test forwards from overseas in Christo Bezuidenhout and Sebastien Chabal; Saracens have lured a goal- kicking outside-half, Glen Jackson, all the way from the Bay of Plenty in New Zealand. But a good deal of smart money will follow Krige's fortunes, for the 29-year-old open-side specialist is one heck of an act when the scrap is on and the competitive juices are in full flood.

Cornelius Petrus Johannes Krige... the man sounds like half a pack. He was born in Zambia, educated in Paarl and forged in the fires of the hottest of all South African sporting furnaces, Western Province. His entire professional career to date has been spent at Newlands in Cape Town - the equivalent of a Shakespearean actor making 90 per cent of his appearances in front of the Stratford cognoscenti - and has the scars, more mental than physical, to prove it. One of his prime motivations in signing up for a stint in the English Premiership was to breathe some fresh air after months and years in the heavy, occasionally fetid atmosphere of Springbok rugby.

"The Springboks will be in my heart, always," he said. "But that part of my life is over now, and there is something in me that feels nothing but relief. There are two extremes in the world of South African rugby. There is the incredible support for the Boks, who are absolute heroes when things are going well. And then there is the flip side, which is seriously bad. You can be annihilated, torn apart, by the rugby press and public when the team is struggling. Things are said and written that I wouldn't wish on my worst enemy. At times, the strain on myself and my family was immense. I don't miss that side of the South African game. I never want to experience anything like it again."

Yet for wholly positive reasons, he recognises something of Cape Town and its rugby fervour in his new surroundings in the East Midlands. A cynic might say that if Krige cannot make a home for himself at Franklin's Gardens, where so many of his countrymen - the coach Alan Solomons, the prop Robbie Kempson, the lock Selborne Boome, the hooker Johan van Wyk and the wing Wylie Human - are earning a living, he could not do so anywhere outside the shadow of Table Mountain. But to Krige's mind, Northampton is a genuine home from home.

"A little like the Springboks, this club has suffered from inconsistency - a win-one, lose-one, win-three, lose-three syndrome," he said. "When we come right down to it, we are talking about under- achievement. It is the kind of situation which suits me, I think. It will take me some time, maybe a couple of months or more, to work out exactly what needs to be done here, but I would much rather face this kind of challenge than come into a club where there was no room for improvement."

Krige might easily have materialised in Premiership rugby three seasons ago, when Bath - today's visitors to Franklin's Gardens, ironically enough - waved their chequebook in front of his eyes. "I was on my way, more or less," he said. "But then the Springboks fired Harry Viljoen as coach, and appointed Rudi Straeuli. It changed everything. I hadn't enjoyed Viljoen's coaching and he hadn't enjoyed my playing, so there was nothing for me in Springbok terms while he was around. But there were different possibilities for me under Rudi, and I decided to stay in South Africa."

Frank and forthright as he is, Krige was not prepared to offer an opinion as to whether this was one of his better ideas. The Bokke captaincy meant an enormous amount to him - "I gave it 100 per cent, and I am at peace" - but the excesses of the World Cup boot camp, a grisly collage of nude training exercises and ritual humiliation and accusations of racism, did precious little for the self-esteem of those involved and weighed heavily upon him. "I have put it behind me," Krige said. "Things happen, some of them entirely outside of your control. Let's say I was in the right place at the wrong time."

Somewhere deep down in the Springbok psyche, however, there lurked a decent performance, and they produced it against England in a compelling pool match in Perth. Krige's own display was magnificent; aggressive and passionate, he gave everything of himself. A couple of weeks later, the Boks turned up their toes against the All Blacks and faded from view without so much as a flicker of a fight. It was one of the mysteries of the tournament. Ten months on, can he even begin to explain the capitulation?

"I can try," he said. "The performance against England was indeed very good, and had we not played New Zealand in the quarter-final I believe we may have won the World Cup. But we did play New Zealand, and it was a problem. We meet them twice a year, every year, in the Tri-Nations tournament, and familiarity is a major factor for all the countries. In South Africa, we know how to beat Australia. In turn, the Wallabies have a hold over the All Blacks. Our misfortune was that the All Blacks had developed a habit of beating us. To beat them in a World Cup quarter-final, we needed to be at full strength. But we were struggling at outside-half, and Marius Joubert was missing from our midfield. Can two positions wield so much influence? At the highest level, yes. There you have it."

And now Northampton have Krige, described by the sage and perceptive Solomons as a "natural leader" in the mould of David Wilson and Andre Vos, fellow southern hemisphere flankers who made, and in Vos' case continue to make, a priceless contribution at Harlequins. "I didn't expect to be given the club captaincy immediately, or even at all, but I do enjoy the role and am prepared to make the necessary sacrifices, as I have always done from my earliest days in rugby," Krige said.

With sacrifice comes high regard. Two years ago, when Krige led perhaps the least-experienced Springbok side ever to leave South Africa in a Twickenham Test against a mature England team in red-hot form, he sensed the panic and helplessness around him and, in an attempt to show he cared, proceeded to create mayhem around the paddock. It was not a particularly edifying spectacle and Krige subsequently apologised for it, but many of the senior England players understood his motives and respected his naked courage. Over the next couple of seasons, as the newcomer to the Premiership finds his feet in the most demanding club league in world rugby, that respect will only increase.

Copyright 2004 Independent Newspapers UK Limited
Provided by ProQuest Information and Learning Company. All rights Reserved.

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