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Skeletal Dysplasia

Detecting, Treating and Understanding Abnormal Bone Growth

By Teri Brown

When Rosa Serpico and her husband found out they were going to have a baby, they were elated. They dreamed of a healthy, happy baby. Even when the doctor told them their baby had short bones, they really weren't concerned.

In fact, because the majority of the baby's family was of shorter stature, they figured the baby would be small as well. After the second ultrasound, physicians told Rosa Serpico that the baby might have Skeletal Dysplasia. While they could have had an amniocentesis to confirm the diagnosis, Serpico and her husband decided against the test.

"There is a chance of complications [during the pregnancy] because of the test," says Serpico. "There wasn't anything we could do about the baby's condition, so it wouldn't have made a difference if we had known."

Skeletal Dysplasia is an umbrella term used to describe a group of more than 100 genetic conditions marked by abnormal bone growth. Between 14,000 and 27,000 babies are born each year in the United States with some form of Skeletal Dysplasia. Some of the most common forms are Achondroplasia and Osteogenesis Imperfecta. As for Serpico's now 4-month-old baby, she was born with Achondroplasia, the most common form of dwarfism.

"Obviously we were very upset by the diagnosis," says Serpico. "This is not something you would choose for your child, but other than the Skeletal Dysplasia, she is very healthy and beautiful."

Dr. David L. Rimoin, director of the Medical Genetics Institute at Cedars-Sinai Medical Center in Los Angeles, Calif., says the most common symptoms of Skeletal Dysplasia are short bones, often detectable even before birth.

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