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Stickler syndrome

Stickler syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. It was first studied and characterised by Dr. G.B. Stickler in 1965. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. more...

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Types

Genetic changes are related to the following types of Stickler syndrome:

  • Stickler syndrome, COL11A1
  • Stickler syndrome, COL11A2
  • Stickler syndrome, COL2A1

Stickler syndrome is a subtype of collagenopathy, types II and XI.

Whether there are two or three types of Stickler syndrome is controversial. Each type is presented here according to the gene involved. The classification of these conditions is changing as researchers learn more about the genetic causes.

Causes

The syndrome is thought to arise from a mutation of several collagen genes during fetal development. It is a sex independent autosomal dominant trait meaning person with the syndrome has a 50% chance of passing it on to each child. There are three variants of Stickler syndrome, each associates with a collagen biosynthesis gene.

Symptoms

Individuals with Stickler syndrome experience a range of signs and symptoms. Some people have almost no signs and symptoms; others have all of the features described below. In addition, each feature of this syndrome may vary from subtle to severe.

A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features, called Robin sequence, is common in children with Stickler syndrome. Robin sequence includes a U-shaped cleft palate (an opening in the roof of the mouth) with a tongue that is too large for the space formed by the small lower jaw. Children with a cleft palate are also prone to frequent ear infections and swallowing difficulties.

Many people with Stickler syndrome are very nearsighted (described as having high myopia) because of the shape of the eye. People with eye involvement are prone to increased pressure within the eye (glaucoma) and tearing of the lining of the eye (retinal detachment). The jelly-like substance within the eye (the vitreous) has a distinctive appearance in the types of Stickler syndrome associated with the COL2A1 and COL11A1 genes. The type of Stickler syndrome associated with the COL11A2 gene does not affect the eye.

Another sign of Stickler syndrome is mild to severe hearing loss that, for some people, may be progressive. The joints of affected children and young adults may be very flexible (hypermobile). Arthritis often appears at an early age and worsens as a person gets older. Learning difficulties can also occur because of hearing and sight impairments.

Genetics

Mutations in the COL11A1, COL11A2 and COL2A1 genes cause Stickler syndrome. These genes are involved in the production of type II and type XI collagen. Collagens are complex molecules that provide structure and strength to connective tissue (the tissue that supports the body's joints and organs). Mutations in any of these genes disrupt the production, processing, or assembly of type II or type XI collagen. Defective collagen molecules or reduced amounts of collagen affect the development of bones and other connective tissues, leading to the characteristic features of Stickler syndrome.

Read more at Wikipedia.org


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A fresh (smiley) face
From Milwaukee Journal Sentinel, The, 6/25/04

A fresh (smiley) face

With all the Big Gig has to offer, why not tune in to something different?

Friday, June 25, 2004

Stuck in a Smiley Face rut?

Summerfest has been a Milwaukee tradition since 1968, and despite an impressive lineup for 2004, we can understand if your Big Gig routine is getting a little stale.

This year, instead of meeting your pals at the same beer tent to hang out and see the same bands as last year, consider mixing it up with some fresh ways of 'festing.

Here are a few suggestions to get you started:

Best imports

Whether you want to be submersed in an exotic musical experience or just like your rock with an Outback accent, here are a few highlights of global Big Gig flavor:

-- Angelique Kidjo: Born in Benin, Kidjo has made a career of blending African and Latin musical traditions with those of America. Her latest CD, the May release "Oyaya!" is irresistible. (8 p.m. Monday, Potawatomi Bingo Casino Stage)

-- Burning Spear: For more than 30 years, the Jamaican-born reggae icon has used music to get across his positive message of self- determination and political empowerment. (10 p.m. Tuesday, North Shore Bank Landing)

-- Colin Hay: You know him best as the Men At Work singer who introduced MTV Nation to such Australian oddities as Vegemite, but Hay (born in Scotland, if you're a stickler) has also scored critical acclaim for a number of sharply written solo albums. (7:30 Wednesday, Piggly Wiggly MusicMarket)

-- Paul Oakenfold: The native Londoner has been in the vanguard of house music since the '80s, retaining his techno cool cred while scoring top 40 hits such as "Starry Eyed Surprise." (10 p.m. Thursday, North Shore Bank Landing)

-- Jet: The energetic Australian retro-rockers ask that eternal question: "Are You Gonna Be My Girl?" (10 p.m. July 4, Harley- Davidson Roadhouse)

-- Gemma Tarlach

Best daytimers

Third-shifter? Phobia about vampires? Whatever the reason, if you have to limit your Summerfest visit to the daylight hours, you can still enjoy some great tunes. Check out these early bird specials:

-- Madisalsa: Madison's own are guaranteed to incite mass toe- tapping, hip-swaying and all-out shimmying -- the perfect lunchtime workout. (Noon Saturday, Harley-Davidson Roadhouse)

-- Matt Nathanson: Singer-guitarist Nathanson stands out from the pack with his caramel-smooth voice and melodic songcraft. (6 p.m. Saturday, Piggly Wiggly MusicMarket)

-- Lewis Black: No one rages and rants about politics, the weather and soy milk to quite the same comic heights. Catch his early show for a better chance at scoring a seat. (5 and 7 p.m. Monday, Hyundai Big Easy Club)

-- Stockholm Syndrome: Widespread Panic bassist Dave Schools and Jackmorons' Jerry Joseph front this eclectic, rock-based jam band that's not afraid to get political. The band's debut, "Holy Happy Hour," arrives in stores Tuesday. (5 p.m. July 2, North Shore Bank Landing)

-- Jem: Often compared to Dido, the Welsh-born Jem mixes pop sensibilities with electronica experimentation, holding it all together with her intimate, accessible voice. (3 p.m. July 3, Piggly Wiggly MusicMarket)

-- Gemma Tarlach

Dixie delights

The Southland has given us the blues, jazz, rock 'n' roll, zydeco, country and gospel. So it's not too surprising that during Summerfest, the lakefront sometimes feels like a chillier suburb of New Orleans. If you're there on a cold night, here's some Southern tonic to restore circulation:

-- Asleep at the Wheel: Ray Benson says they're just an old dance band. Maybe so, but no dance band since the storied Bob Wills and the Texas Playboys has done more to keep the fiddles burning for Western swing. (10 p.m. Saturday, Potawatomi Bingo Casino Stage)

-- Paul Thorn: He's a minister's son from Tupelo, Miss., the little town that gave the world Elvis Presley. Primitive artist, prizefighter and musical storyteller, Thorn is a delightful blend of rock 'n' roll and Deep Southern Gothic surrealism where the preachers run fireworks stands and the strippers are children of God. (6 p.m. Sunday, Piggly Wiggly MusicMarket)

-- Old 97's: Few bands have waved the alt-country banner with more elan than Old 97's. Rhett Miller is back from his solo sabbatical, and the boys have a new disc that seems to carry on the same ragged glory with tunes like "Borrowed Bride" and "Valium Waltz." (8 p.m. July 2, Piggly Wiggly MusicMarket)

-- Terrance Simien and The Zydeco Experience: Zydeco stars tend to be more bandleaders than singers, but the exception is Terrance Simien who brings the vocal polish and soulfulness of Sam Cooke to the bayou country. Accordion kinship has made zydeco a Summerfest favorite and nobody serves it with more style than Simien. (6 p.m. July 4, Hyundai Big Easy Club)

-- Dave Tianen

The Boomer Ballroom

Does your hair color resemble Gandalf in a bottle? Does your bad knee occasionally rebel during moments of exuberance with Buckwheat Zydeco? Then you may be a Boomer at Summerfest. The Big Gig occasionally feels like the Kid Gig, but there are still some oases where the Class of '67 can remember when rock was young.

-- Dion: Just ask Lou Reed. Dion DiMucci pretty much invented Italian doo-wop and New York city streets' rock. He's also one of the handful of the original practitioners who are still in the saddle. And his late-'80s classic "Yo Frankie" was as good as anything rock's senior class has done in the past 20 years. (8 tonight, Briggs & Stratton Big Backyard)

-- Buddy Guy: Guy is one of the last of the great Chicago bluesmen, a dazzling showman and a still vital recording artist. (10 tonight, North Shore Bank Landing)

-- Joan Jett and The Blackhearts: She's the kind of girl that seems like she was born and raised in a woman's prison movie by Wendy O. Williams. Jett pioneered female musical delinquency in The Runaways and carries the snarling banner of rock 'n' roll into her 40s. (10 p.m. Monday, Briggs & Stratton Big Backyard)

-- Taj Mahal and the Hula Blues: They ought to make him principal of the School of Rock. And the School of Blues. And the School of World Beat. Taj Mahal has been giving musical education a good name since the mid '60s. In recent years he's even branched out to children's music with albums like "Shake It To the One That You Love the Best." (10 p.m. July 3, Potawatomi Bingo Casino Stage)

-- Dave Tianen

Best local bands

Summerfest brings in an onslaught of national acts, but is less recognized for its role in boosting the careers of local bands and solo acts. Here are just a few:

-- Jon Paris Trio: Here's a local blues-rocker who went on to back national acts ranging from Chuck Berry to Bob Dylan during his 25- plus-year career. His own band combines old and new rock influences. (7:30 tonight, North Shore Bank Landing)

-- Capitol Drive: Back in the late '80s and early '90s, this R&B act was tearing up the club scene. Several key members remain on the circuit and recently decided to regroup. Current Streetlife vocalist Joe Jordan -- Capitol Drive's original lead singer -- is back in the fold. (5 p.m. Monday, Harley-Davidson Roadhouse)

-- Mississippi Cactus: This under-30 band is influenced by acts more than twice its age. A seasoned '60s and '70s pop, rock and blues- rock sound is faithfully rendered on the band's originals as well as during its occasional cover tune. (2:30 p.m. Monday, North Shore Bank Landing)

-- King Solomon: A reggae band that seamlessly blends pop, rock and R&B elements into its flow, this King Solomon should satisfy crowds who like a little stateside flow in their rub-a-dub. (5 p.m. Tuesday, North Shore Bank Landing)

-- Upside Groove Coalition: Think of a young Red Hot Chili Peppers flavored with bits of Beck and Jon Spencer Blues Explosion. (3 p.m. July 2, Miller Oasis)

-- Nick Carter

Best tribute acts

Are they even better than the real thing? Whether you consider tribute acts a curse or a blessing, they're a constant throughout summer festival season, and Summerfest is paying more attention to them than usual this year.

-- The biggest collection of tribute acts is Thursday at the Miller Oasis.

Starting things off at 3 p.m. will be No Quarter, a Canadian Led Zeppelin tribute that delivers all from "Stairway to Heaven" to lesser-known album cuts like "The Rover."

At 6:30 p.m., the Aerosmith imitators of Pump touch on everything from "Dream On" and "Sweet Emotion") to second-wind '80s gems like "Rag Doll" and "Dude Looks Like a Lady."

Closing the night at 10 p.m. will be Def Leppard impressionists Pyromania, who formed four years ago with the mission of creating fresh revisions of "Photograph" and "Rock of Ages."

Other tributes:

-- "Hairball -- A Spoof of '80s Rock": The national music revue features playful pokes at Reagan-era rock excesses (8 and 10 p.m. Sunday; Mountain Dew Rock Stage)

-- Driven to Tears: The group re-creates the hits and lesser- known ditties of the Police. (1 p.m. July 3, Mountain Dew Rock Stage)

-- Nick Carter

Copyright 2004 Journal Sentinel Inc. Note: This notice does not apply to those news items already copyrighted and received through wire services or other media
Provided by ProQuest Information and Learning Company. All rights Reserved.

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