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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...

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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: Rathbone no regrets after beating Boks
From Independent, The (London), 8/2/04 by Peter Bills at the Subiaco Oval, Perth

WHEN A South African scores the winning try for Australia against a Springbok team coached by the man who was once his mentor, rugby men throughout the Republic are entitled to feel a little disgruntled.

Add on the fact that the Springboks' much-vaunted forward unit simply failed to fire here on Saturday and you will understand the depth of dismay that confronted Jake White's men on their long flight home to Johannesburg last night.

Clyde Rathbone, whose try 10 minutes from the end of the match completed the Wallabies' revival from a 16-7 first-half deficit, is South African born and bred, and captained their world champion Under- 21 side. But he slipped through the Springboks' fingers because he saw no future for himself and his family in the new Republic. Quite recently, he turned down a huge financial offer to go back, accepting instead a far smaller sum from the Australian Rugby Union.

Rathbone made his feelings quite clear after he had broken his old coach's heart. Did he have mixed emotions at getting the try which whipped his former friends? The burly wing looked puzzled. "No, not at all," he said. "I consider myself Australian. I was just glad I could contribute to the team's performance. There is no question where my loyalties lie."

In truth, as in Christchurch seven days earlier, it wasn't just the last try that beat the Springboks. Losing eight of their own line- out throws was a significant factor, as was the inability of their scrummage to look the part. If you had a bottle of wine as ordinary as this Australian pack, you'd call it one thing: "plonk". The lock Justin Harrison is a fist fight waiting to happen and the front row wouldn't frighten a bunch of pussycats. But they resisted the Springbok eight and White has to think about changes when New Zealand and Australia visit later this month.

For the second consecutive game, South Africa lacked the tactical nous, the cunning and the experience to close down the game. From a healthy lead with five minutes of the first half remaining and the opposition wobbling like jellies at a children's party, the Springboks should have taken control. Their inability to do so had much to do with the inexperience of their players.

Australia's half-back pairing of George Gregan and Stephen Larkham won the Test for the Wallabies. They capitalised on their possession and ran the game. Gregan was winning his 100th Test cap, Larkham his 71st. Their opposite numbers in the South African side, the scrum- half Fourie du Preez and the fly-half Jaco van der Westhuyzen were, in comparison, winning their sixth and 15th caps. Enough said.

Experience is not to be found on the supermarket shelves, alongside the tinned fruit. It is purchased only through blood, sweat and tears and, yes, in heart-breaking defeats such as South Africa's against New Zealand and Australia in the last seven days. It cannot be acquired in any other way.

The Wallabies meet New Zealand in Sydney on Saturday. They, like South Africa, have much work to do. Only the guile of their half- backs, their penetrative running behind the scrum and their ability to capitalise on the Springboks' failings up front finally dragged them to victory. It wasn't a convincing performance, despite their four tries, all by the backs.

Larkham's run to make Chris Latham's 57th-minute try edged them 23- 19 ahead, but when the substitute Gaffie du Toit scored, the Springboks regained the advantage at 26-23.

They held it until nine minutes from time, when Larkham again opened up the Boks' defence with a lobbed pass which sent Rathbone diving into the corner.

l The All Black wing Jonah Lomu left hospital yesterday, six days after undergoing a kidney transplant. Lomu, 29, has suffered from nephrotic syndrome for many years and received his new kidney from an anonymous donor, believed to be a friend. It will be some time before the success of the transplant is known, but Lomu has announced his intention to play rugby again.

Australia: Tries Tuqiri, Larkham, Latham, Rathbone; Conversions Giteau, Burke; Penalties Giteau 2. South Africa: Tries Van der Westhuyzen, De Villiers, Du Toit; Conversion Montgomery; Penalties Montgomery 3

AUSTRALIA: C Latham; C Rathbone, S Mortlock, M Giteau, L Tuqiri; S Larkham, G Gregan (capt); B Young, J Paul, A Baxter, J Harrison, N Sharpe, G Smith, D Lyons, P Waugh. Replacements: M Burke for Giteau 64; D Vickerman for Harrison 68; J Roe for Smith 68; M Dunning for Young 74

SOUTH AFRICA: P Montgomery; B Paulse, M Joubert, D Barry, J de Villiers; J van der Westhuyzen, F du Preez; O du Randt, J Smit (capt), E Andrews, B Botha, G Britz, S Burger, J Cronje, AJ Venter. Replacements: J van Niekerk for Burger 30-36; G du Toit for de Villiers 40; CJ van der Linde for Andrews 58.

Referee: C White (England).

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

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