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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.

"Some symptoms are apparent at birth or by ultrasound, such as showing short limbs," says Dr. Rimoin. "Some symptoms are not apparent until several years of life. They include disproportion between the limbs and the trunk and short stature."

Although a specific test can detect Skeletal Displasia, this test is not routinely run during a normal amniocentesis. Babies born with Osteogenesis Imperfecta, a type of Skeletal Dysplasia, may or may not be born with fractures. Babies with Achondroplasia have shortening of the upper portions of the limbs, a large head size with a prominent forehead and flattening of the nose. These features are usually easily noted by a pediatrician or neonatologist.

Dr. Cathleen Raggio, co-director and orthopedic surgeon at the Center for Skeletal Dysplasias Hospital for Special Surgery in New York City, says that tests can pick up abnormalities very early.

"Most cases of Skeletal Dysplasia can be diagnosed clinically after a thorough physical exam and X-rays," says Dr. Raggio. "If necessary, genetic testing can be performed to confirm the diagnosis."

Of more concern than the diagnosis are the possible complications that can occur.

"Children with Achondroplasia can have motor delays, but cognitive development is usually unaffected," says Dr. Raggio. "Respiratory problems can occur in infants and children. These respiratory problems can be due to narrowing of the nasal passage or a narrowing at the base of the skull that can cause compression of the spinal cord."

Other complications include:

• Curvature of the spine
• Bowing of the legs
• Spinal stenosis (compression of the spinal cord), which if severe and left untreated, can cause difficulties with movement and function

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