Towson surgeon forges new life for Hungarian girls Rare form of dwarfism disabled sisters

August 24, 1993|By Anne Haddad | Anne Haddad,Staff Writer

Brigitta and Edina Hagymasi were enjoying a normal childhood of playing with dolls, going to school and helping with household chores.

But their future looked grim. Born with a rare form of dwarfism seven years ago, the sisters had to move more slowly than their triplet brother, who was not born with the genetic defect. The girls had begun to feel pain when climbing stairs or running.

By adolescence, Brigitta and Edina would have needed assistance to walk. As adults, they faced life in wheelchairs.

Doctors in their native Hungary told the girls' parents just to accept their physical difficulty.

"If nothing could be done and they were going to be little people, we would accept it," said their mother, Erika Hagymasi, speaking recently through a translator. "But we wanted to give [medical science] a chance."

She and her husband, Karoly, kept searching for a precise diagnosis and treatment for their daughters. On the advice of a German doctor, they brought them to the Baltimore area, where geneticists and an orthopedic surgeon have done groundbreaking work with little people. That term is generally preferred by those who have dwarfism, or skeletal dysplasia.

In March 1992, a medical geneticist at Johns Hopkins Hospital diagnosed the girls as having Kniest syndrome, a rare form of dwarfism. It is caused by a genetic mutation in the way the body forms collagen.

The tops of their femurs, or thigh bones, had begun to ride out of the hip sockets. The slight dislocation had caused bony bulges at their hips.

Within a few weeks of the diagnosis, Edina underwent the first of a series of operations at St. Joseph Hospital in Towson. She returned to Hungary five months later with a straighter back, hips and legs, and more agility.

Brigitta was impressed -- and a little envious. She could hardly wait until her turn for surgery came this past spring.

Their doctor is Steven E. Kopits, an orthopedic surgeon who in 1985 left Hopkins after 20 years to open the International Center for Skeletal Dysplasia at St. Joseph.

International center

Dr. Kopits has devoted his practice exclusively to little people since 1978. He wrote a textbook in 1990. Patients come from all over the world to his center, where the furnishings are all built to their scale with help from Dr. Kopits' daughter, Towson architect Helen Hiser.

Dr. Kopits had an additional qualification the Hagymasis appreciated: As a Hungarian-American, he speaks their language.

He also helped get St. Joseph Hospital and doctors to donate their services to the Hagymasis. Erika and Karoly, who are dental technicians, ran into bureaucratic obstacles getting the Hungarian government to cover the estimated $170,000 in costs for surgery on both girls.

Dr. Kopits didn't want to wait much longer. If Edina and Brigitta's surgery had been delayed, he said, they might have needed total hip replacement because of damage to the bones.

In the average person, the ends of the body's long bones harden from cartilage into bone by around age 3. In a person with Kniest syndrome, the cartilaginous ends of the bone don't harden until after puberty, Dr. Kopits said. The ends are also abnormally large, with an unusual dumbbell shape.

In the weight-bearing hip and knee joints, the soft femoral head becomes misshapen as it rides out of the hip socket.

"By then, it starts to look like an ice cream cone that you have taken an extra long time to finish," Dr. Kopits said.

In the operating room, Dr. Kopits realigned the girls' leg bones, pinning them back into the hip sockets. After about 10 days, he removed the pins during a second surgery to further align the legs.

He attached plates and screws to the bones to help them heal. Edina returned this spring to have that hardware removed, while Brigitta underwent her first two surgeries.

The head of the femur will remain abnormally large in both girls. But as long as it is contained in the hip, it will mold to the shape of the socket and do its job, Dr. Kopits said.

For about eight to 10 weeks after the first two operations, the girls remained in casts from their ribs to their toes. When Brigitta's cast comes off the end of this month, she will go through about six to eight weeks of physical therapy, as her sister did last year.

20 cases so far

Dr. Kopits has seen about 20 cases of Kniest syndrome from all over the world. He has seen about 3,000 little people in all. A few of his patients now are the offspring of little people he operated on as children.

Victor A. McKusick, a medical geneticist at Johns Hopkins Hospital, also has international distinction regarding Kniest syndrome. He was among the first doctors to name the condition around 1970, after seeing patients who matched symptoms of another case reported by a West German doctor, W. Kniest, in 1952. Dr. Kniest had reported the dumbbell-shaped bones unique to the syndrome.

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