Victor A. McKusick, 86, pioneer in human genetics Jul 25, 2008
Using medical and genetic histories, he demonstrated that it was possible to identify the genes responsible for inherited physical abnormalities and disorders, such as achondroplasia and other forms of dwarfism. Acknowledging his work, the Little People of America, a support group for midgets and dwarfs, made the 6-foot-2 Dr. McKusick an honorary member. (Boston Globe)
Mutant testis cells behind genetic disorder have survival advantage Jul 15, 2008
This evolutionary explanation, which has been proposed but rarely tested, may hold true for other genetic disorders such as achondroplasia, the most common form of dwarfism, as that condition is also linked to a single gene substitution ... The study is also of interest since some mutations in the same genes involved in Apert's syndrome and achondroplasia (FGFR2 and FGFR3) appear to be involved in some types of cancer. (EurekAlert!)
* Meter-tall student a giant on stage Jun 15, 2008
Yeh, who attends fourth grade at Beimen Elementary School in Taoyuan, suffers from Achondroplasia, a chromosomal disorder that affects the bones. As a result, his bone mass is that of a seven-year-old. (Taipei Times, Taiwan -- World)
Sexual liberation: The answer to all our tax needs May 2, 2008
"Except for the rare physical abnormalities - such as Huntington's disease, cystic fibrosis, phenylketonuria and achondroplasia - there is no evidence, at the present time, of a direct causative link between a single gene and any complex psychosocial behavior, including sexual preference.Evolutionary geneticist R. C. Lewontin stated this explicitly in his 1984 work, "Not in Our Genes. ""Up to the present time no one has ever been able to relate any aspect of human social behavior to any... (Waterloo-Cedar Falls Courier)
Tiny Teenager Stands Tall Despite Her Height of 23 Inches Apr 9, 2008
Amge has a form of dwarfism called achondroplasia, which affects an estimated one out of every 25,000 births and occurs in all races ... According to the Mayo Clinic, about 70 percent of all people with dwarfism have achondroplasia, which causes disproportionately short stature. (Fox News)
Girl undergoes surgery to gain height Apr 6, 2008
The Iraqi girl was diagnosed with achondroplasia, a genetic disorder that causes dwarfness. But today she stands 12 cm taller, thanks to what her parents see as a miracle surgery in this city. (India Times, India -- Health/Science)
Little person's big world Feb 18, 2008
While his parents, Sonya and Claudio Malaguti, are average height, Gene was born with achondroplasia, the most common form of dwarfism ... " Cathy Hughes of Cary is co-president of the 200-member Colonial Chapter of LPA, which includes an area from eastern North Carolina to central Virginia. Cathy and her husband are average height; their son, Michael , 15, has achondroplasia. The chapter hosts a variety of events for little people and their families from surfing to sightseeing. An event earlier... (The Daily Reflector)
Loveland Family Looking Forward To New Home Nov 2, 2007
At four foot, eight inches tall, Brian is an achondroplasia dwarf and suffers related health issues, such as a herniated disc squeezing his spine. Achondroplasia dwarfism is, hort arms, short legs and bigger torso and the head is bigger than average, Brian said ... here are over 200 kinds of dwarfism, Brian said, with achondroplasia being one of the most common forms. (Honesdale Wayne Independent, PA)
Smile ignites Popovich's beacon at Paralympics Aug 4, 2007
Popovich was born with achondroplasia, a genetic disorder of bone growth that is evident at birth. It is the most common of the group of growth defects characterized by abnormal body proportions. (Xinhuanet, China)
Doctor: Persistence key to realizing dreams May 25, 2007
Ain, an Owings Mills resident who was born with achondroplasia (a form of dwarfism), is one of just three little people who are practicing physicians in the United States and the only one to become a surgeon ... In it, a man discussed the worries that filled his thoughts after his daughter was born with achondroplasia ... A few weeks after the birth, however, the father met a man who also had achondroplasia and happened to be a physician. (Owings Mills Times, MD)
* Wild oats are best sown early, studies suggest Mar 4, 2007
One of the most studied of these conditions is a form of dwarfism called achondroplasia, but the list also includes neurofibromatosis, the connective-tissues disorder Marfan syndrome, skull and facial abnormalities like Apert syndrome, and many other diseases and abnormalities. "We have counseled for quite a long time that as paternal age increases, there is an increased frequency in new mutations," said Joe Leigh Simpson, president-elect of the American College of Medical Genetics. (Taipei Times, Taiwan -- World)
Older fathers appear to raise risks of genetic disorders Mar 1, 2007
One of the most studied of these conditions is a form of dwarfism called achondroplasia, but the list also includes neurofibromatosis, the connective tissues disorder Marfan syndrome, skull and facial abnormalities like Apert syndrome, and many other diseases and abnormalities. Some studies suggest that the risk of sporadic single-gene mutations may be four to five times higher for fathers who are 45 and older, compared with fathers in their 20s, said Dr. Joe Leigh Simpson, president-elect of... (International Herald Tribune -- Health)
Some ponder 'designer' babies with Mom or Dad's defective genes Dec 22, 2006
Their newborn daughter died last year from a devastating dwarfism-related disease called homozygous achondroplasia. Dwarf couples have a 25% chance of having babies afflicted with the lethal condition, the same odds of having "normal" children, but a 50% chance of having dwarf children. (USA Today)
Genetic screening with a twist: Disabilities wanted Dec 10, 2006
"But both doctors said they would not oppose sending families to other doctors who might consent.Parents increasingly use medical procedures to alter healthy bodies. In 2003, for example, the Food and Drug Administration granted approval to Eli Lilly to market human growth hormone for "idiopathic short stature," or below-average height in children - to make them taller, purely for social reasons. Theoretically, almost a half million American boys qualify for treatment. Why, some may argue,... (The Morning Star)
Sperm quality declines with age Nov 24, 2006
In this study, researchers found a connection between a mutation in sperm DNA and a form of dwarfism known as achondroplasia. As more becomes known about the genetic underpinnings of human development and disease, more such links may become evident. (FOX59, IN)
He's a demented little 'Jackass,' but a star Sep 22, 2006
"It's the absolute worst feeling anyone will ever know," says Wee Man, a 4-foot, 6-inch man who was born with achondroplasia, a form of dwarfism. "I broke my femur in so many spots that it now looks like a candy cane with a bunch of dents in it. But by the time they were putting the 11-inch rod into my body, I was over it. Believe it or not, you get used to pain. If it doesn't intimidate you, nothing will.". (Newsday -- Entertainment)
Biological clock ticks for men, too, studies say Sep 10, 2006
In 1912, a German obstetrician named Wilhelm Weinberg realized that achondroplasia, an inherited form of dwarfism, was more common in the youngest children of large families than their older siblings. Even in the early days of genetics, Weinberg was able to deduce why: A child's chances of having the disease grew as parents aged. (SunSpot.net)
Genetic Quality of Sperm Deteriorates as Men Age Jun 7, 2006
It has been known that offspring of older fathers are more likely to suffer from conditions such as schizophrenia and achondroplasia, a form of dwarfism, the journal report said ... But there was an increase in gene mutations that can lead to achondroplasia and Apert syndrome, which causes malformation of the skull. (Health-Finder)
Older fathers 'put their child's health at risk' Jun 6, 2006
The sperm of older men is also more likely to carry the genetic mutation which causes achondroplasia, or dwarfism. Dwarfism is a disorder that affects bone growth, which occurs in about one in every 25,000 births. (Daily Mail - UK)
Celeb-kitty: Apr 21, 2006
Munchkin cats are believed to have a form of dwarfism, perhaps achondroplasia or hypochondroplasia, said Leslie Lyons, an associate professor at the University of California Davis, who studies feline genetics. The breed has been around for at least 10 to 15 years, she said. (San Diego Union-Tribune)
Ancient Egyptians Held Dwarves in High Esteem Jan 1, 2006
In achondroplasia, the trunk of the body is of normal size, but the limbs are extremely short and the head tends to be unusually large. It's believed that achondroplasia was one of the most common causes of dwarfism in ancient Egypt. (Fox News -- Headlines)
