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Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (also known as Broad Thumb-Hallux syndrome) is a condition characterized by short stature, moderate to severe mental retardation, distinctive facial features, and broad thumbs and first toes. Other features of the disorder vary among affected individuals. more...

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Medicines

People with this condition have an increased risk of developing noncancerous and cancerous tumors, leukemia, and lymphoma. This condition is inherited in an autosomal dominant pattern and is uncommon occurring in an estimated 1 in 125,000 births.

Features of Rubinstein-Taybi syndrome

An isolated case was described in 1957 by Michail and Matsoukas. In 1963 Rubinstein and Taybi described a larger series of cases. Typical features of the disorder include:

  • Broad thumbs and broad first toes
  • Mental retardation
  • Retarded height, bone age, small head
  • Cryptorchidism in males
  • Unusual faces - eyes, nose, palate

Genetics

Mutations in the CREBBP gene cause Rubinstein-Taybi syndrome. The CREBBP gene makes a protein that helps control the activity of many other genes. The protein, called CREB binding protein, plays an important role in regulating cell growth and division and is essential for normal fetal development. If one copy of the CREBBP gene is deleted or mutated, cells make only half of the normal amount of CREB binding protein. A reduction in the amount of this protein disrupts normal development before and after birth, leading to the signs and symptoms of Rubinstein-Taybi syndrome.

Mutations in the EP300 gene are responsible for a small percentage of cases of Rubinstein-Taybi syndrome. These mutations result in the loss of one copy of the gene in each cell, which reduces the amount of p300 protein by half. Some mutations lead to the production of a very short, nonfunctional version of the p300 protein, while others prevent one copy of the gene from making any protein at all. Although researchers do not know how a reduction in the amount of p300 protein leads to the specific features of Rubinstein-Taybi syndrome, it is clear that the loss of one copy of the EP300 gene disrupts normal development.

Read more at Wikipedia.org


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Dale Murphy: baseball's Mr. Nice Guy; the biggest row he's ever caused was when he objected to lady reporters in the locker room
From Saturday Evening Post, 10/1/86 by Jack Hayes

DALE MURPHY: BASEBALL'S MR. NICE GUY

The guy stands 64 tall. He weighs 215 pounds. To say he's tough would be an understatement. But he's proved you don't have to drink beer, spit tobacco, laugh at dirty jokes, or curse at the umpires to be a winner in baseball. He's clean as a glass of milk and gentle as a lamb. His name is Dale Murphy.

Chuck Tanner, the manager of the 1986 Atlanta Braves, calls Murphy "Mr. Perfect.' In eight seasons with the Braves, the 30-year-old Murphy has compiled team career-batting figures exceeded only by the Hall of Famer Hank Aaron. Tanner and others who have watched, coached, or played with Murphy rhapsodize when asked about the likeable father of four young boys who teaches religion to teen-agers in Roswell, Georgia, during the off-season. "God puts somebody down here like Murphy only every 50 years,' Tanner says. "I'm not talking just about baseball, either. I'm talking about him as a person. In my opinion, there's no finer fellow on earth.'

Willie Stargell, a coach on the Braves' staff and a retired Pittsburgh Pirates star, praises Murphy's composure in tough situations. "He stays friendly even when he's hurting,' says Stargell, who has seen the highs and lows of many players during his long career. "He just never has a bad word for anybody.'

Murphy does have human faults. He strikes out and drops fly balls just like everybody else. ("I saw him drop a beautiful quiche right in the church parking lot,' says Bishop Gerald Bahr, the Mormon leader who presides over Murphy's church congregation.) Still, for a guy who gets so much attention, Murphy has walked a straight line. "I've often wondered whether I could have handled major-league fame as well as he has,' reflects Jack Dunn, his high-school coach and a former minor leaguer. Murphy's sole source of bad press?--an avowed dislike of lady reporters in the clubhouse.

The only thing ostentatious about Murphy is what shows in the baseball record books. In 1983, he became only the fourth National League player to win back-to-back MVF awards. In 1986, for the fifth consecutive year, baseball fans voted Murphy to the NL All-Star team. He is consistently at or near the top of several NL offensive categories. Last year, he finished first with 37 home runs, which marked his fifth season with more than 30 homers.

Coming into 1986, Murphy was the only NL player to drive in more than 100 runs a season for your consecutive years since Steve Garvey did it with the Dodgers in 1977 through 1980. Should he drive in that many runs again this season, he'd be a step closer to reaching a record shared by Willie Mays--a boyhood hero he saw playing in San Francisco when his family lived in northern California --who did it eight years in a row from 1959 through 1966. Murphy resembles Mays in defensive play: His reputation in center field makes him a constant concern to base runners. Last season, he also won the Lou Gehrig Memorial Award, a prize that recognizes outstanding image and character.

Consistency is another Murphy attribute. Among active major leaguers, only Steve Garvey and Pete Rose have had longer consecutive-game streaks than the one Murphy himself brought to a halt this season after 740 games. He had decided that the day-to-day pressure of the streak was distracting him. The greatest threat to it had come earlier in the season when Murphy cut his right hand making a catch against the center-field fence and needed several stitches to close the wound. The start of the next Braves' game found Murphy sitting on the bench. But in a scenario worthy of a scriptwriter, he kept his streak alive by pinch-hitting and promptly cracking a home run. (The resemblances to Hollywood ended there, as the Braves went on to an 8-1 defeat.) He continued his streak the next day.

Something about the clean-cut example Murphy sets prompted his fans to react with compassion rather than criticism to his recent prologed slump. Larry Munson, the host of a sports talk show in Atlanta, claims callers to his show were overcareful not to dissent Murphy during this mysterious decline. "If he were anyone else on the team, they would have eaten him alive,' says Munson.

Murphy signed into the baseball profession right out of high school. An admirer of the Cincinnati Reds' Johnny Bench, he was a promising catcher throughout his minor-league career and during his first two years in Atlanta as well. But an increasingly inaccurate arm prompted the Braves' coaching staff to move him to first base, then in 1980 to the outfield, where he has won four Gold Glove awards since 1982. That first year in center field, he blossomed as a batter by hitting 33 home runs. After the strike-shortened season of 1981, he hit 36 homers in both '82 and '83 (his MVP years), 36 again in '84, and 37 in '85.

An active Latter-day Saint, Murphy is not one to flaunt his religion. He was introduced to Mormonism by Barry Bonnell, a former Atlanta Brave. Bonnell baptized him the day after the end of the 1975 season, when both were minor-league players in the Atlanta organization. After his first season in Atlanta, Murphy spent the winter of 1978-79 at Brigham Young University, where he met his wife, Nancy. They were married the following October. The oldest of their four sons is now five. All has not been blissful, however: Their second child, Travis, suffers from Rubinstein-Taybi syndrome, which retards mental and physical development.

There were many pressures early in his marriage to draw him away from home--particularly after he received his second MVP award. He hints that he's since made some hard choices. It's not just the game and the post-season appearances, either--it's the possible injury to his spouse' identity. Continually, he says, a wedge is being driven between an athlete and his family. "You go out in public and it's "Hi, Dale.' Then they see your wife and say "Hi' again, but it's not the same.'

Murphy "feels' for the many athletes still struggling with their fame. He sympathizes with their frailties and insists he's as weak as the next man when it comes to everyday problems. Yet he knows the public isn't willing to allow its heroes such privileges. "I feel sorry for the guys who've taken a bad rap because of something they've said or done. Maybe some of them have deserved it. But because they're great at one thing doesn't mean they're perfect. I'd like for people to know we are human,' he says.

He may have one weakness. He has difficulty saying no. Stargell sees a lot of demands put on the slugger, who drew nearly 1.5 million All-Star votes in 1985--more than any other player. Bishop Bahr, who called Murphy as a seminary teacher two years ago, feels the same way. "Those around Dale often have to say the no's for him,' he says. There were embarrassing times when people even asked for Murphy's autograph in church, Bishop Bahr recalls.

Thus, Murphy has learned that fame has its negative side. Popular athletes, he now admits, are like entertainers who love and become hooked on their jobs and their following, often to the detriment of their families. "The problem is that it's so much fun,' he says with a shrug. "It's more than fun. It's addictive!'

On the highly publicized issue of drugs in sports, Murphy is more baffled than opinionated. "I don't see the kind of things they're talking about,' he says. "But we apparently have quite a big cocaine problem in this country, so it's bound to affect athletes.' Murphy adheres to his religious beliefs and doesn't drink, smoke, or chew--let alone use drugs of any sort. He believes his habits contribute to performance as well as to spiritual well-being. "I see so many great athletes--guys who depend on their bodies for their jobs--doing it [not taking care of themselves]. Major-league athletic ability is a gift, and to see that gift neglected is very sad,' he says.

Murphy admits he's scared to imagine his children growing up in a world rampant with physical abuse. "I'm trying to teach my kids principles that will keep them safe and happy in life. And I'm hoping they'll choose those principles when they grow up over the ones the world teaches. It's a big preparation. We're in a scary place,' he says.

Are there any major-league records Murphy can shoot for? With fewer than 300 homers to his credit, and less than half a career left, he admits he's probably not going to catch Hank Aaron's major-league record of 755. And Murphy has hinted to management that he may not play for as long as he's physically able. But Murphy likes to work on more immediate goals, anyway. He's batted .280 or above the past four seasons, and one might imagine him wanting to continue that strong average--especially if it will help him break the 100-RBI level again.

But whether he makes it can't be the most important thing in Murphy's life. Something he's learned is baseball's capacity to humble even the strongest of players. A batter hitting .300 is considered an excellent player, but Murphy likes to put even the best things in perspective.

"That's only a 30 percent success rate,' he says with a grin--in typically modest Murphy fashion.

Photo: Women in the clubhouse are no hit with Murphy: "Guys walk around naked in there!'

COPYRIGHT 1986 Saturday Evening Post Society
COPYRIGHT 2004 Gale Group

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