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Skeletal Dysplasia

Detecting, Treating and Understanding Abnormal Bone Growth

By Teri Brown

"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 f the skull that can cause compression of the spinal cord."

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