Baby Tonnie's puffy hands were one clue.
Her size — 17 inches long and 4 pounds, 12 ounces at full term — was another, as were the extra skin folds on her neck.
"Luckily, my mother's doctor noticed these signs and symptoms as those of Turner syndrome," said Omahan Tonnie Zezulak, who turns 35 next week.
Turner syndrome is a rare chromosome abnormality that occurs in females. Girls with the syndrome don't grow at a normal rate. Their ovaries don't produce eggs or the hormones necessary for the development of secondary sexual characteristics, such as breast development and menstruation.
For Zezulak, that meant she had to take human growth hormone and, at age 16, estrogen therapy.
Women typically have two X chromosomes in each cell, but with Turner syndrome there is one normal X chromosome and one that is missing or structurally altered.
The abnormality is very often fatal during pregnancy. It occurs in about 1 in 2,500 newborn girls worldwide, but it is much more commonly identified among babies that are miscarried or stillborn, according to the National Institutes of Health.
Approximately 80,000 women and girls in the United States are affected with the syndrome, with approximately 800 new cases diagnosed each year, according to the Turner Syndrome Society of the United States.
Zezulak and her "sisters" in the Nebraska Turner Syndrome Support Group will meet at 1 p.m. Saturday at the Munroe-Meyer Institute on the University of Nebraska Medical Center campus. She and others in the group hope to alert people to the syndrome so girls and women can address any health concerns.
Zezulak, a prekindergarten teacher at Ashland Park-Robbins Elementary School, is 5 feet tall. Had she not taken human growth hormone, she said, she would have topped out at 4-foot-8 to 4-foot-10.
The two most common syndrome-related conditions that catch doctors' attention are girls' short stature and delays going into puberty, said Dr. Richard Lutz, a clinical geneticist and pediatric endocrinologist at Munroe-Meyer.
If the condition isn't identified until a girl's midteens, he said, there isn't enough time for the growth hormones to get her to a height where driving a car wouldn't be difficult.
"That's the whole idea," Lutz said. "Detect people when they're relatively young."
About 30 percent of girls with the syndrome have kidney or heart abnormalities.
Zezulak said her kidneys are horseshoe-shaped but function normally. And until she had a cardiac screening at a Turner Syndrome Society convention last year, she wasn't aware that she had an abnormal aortic valve.
"There's a list of signs and symptoms that pediatricians and doctors are missing," she said.
Women with the syndrome are, on average, of normal intelligence but may have difficulty with math or reading maps.
"I did very well in school," said Zezulak, who has a master's degree in education.
Like most women with the syndrome, Zezulak is infertile. She and her husband, Martin, adopted a baby girl seven years ago.
"We can lead full, productive lives," Zezulak said.
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