The Skeletal Dysplasia Center at CCHMC is one of the few that cares for both children and adults of all ages. We provide exceptional continuity of care for young people as they transition into adulthood, allowing patients to remain in the care of experts who are familiar with their health history and who can help them stay as healthy and active as possible. Our experience in treating both children and adults allows individuals of any age and at any point in their diagnosis to feel comfortable at our center.
Our team of specialists is also involved when a prenatal diagnosis of a skeletal dysplasia is suspected. If a parent has a diagnosis of a skeletal dysplasia or has had a previous child with a skeletal dysplasia, genetic testing is often available with an amniocentesis or chorionic villus sampling. Genetic testing may also be available when a skeletal dysplasia is suspected prenatally even without a positive family history. Ultrasounds can also detect skeletal dysplasias, although not all skeletal dysplasias are detected by ultrasound alone. Fetal MRIs, ultrasounds, and genetic testing when available can provide more information about a possible prenatal diagnosis as well as provide clues to the severity of the condition. Specialists from our center can meet with women and couples and explain the most likely diagnosis and prognosis.
