Help in Diagnosis

Since skeletal dysplasias, dysostoses and other genetic disorders of the skeleton are uncommon, most physicians are not familiar with diagnosis and management. Our mission is to help in making a diagnosis based on clinical and radiographic findings, and - wherever possible - to suggest appropriate laboratory tests to confirm the diagnosis and allow for prognostic and genetic counselling.

Clinical photographs and radiographs are the two most important instruments for diagnosis. If you are a physician requesting diagnostic assistance for a patient or family, or an individual or parent of a child suspected to have a skeletal condition, please contact us (see "Our Team") and send photographs and radiographs for review - either by regular mail or by electronic means. Please be sure to obtain informed consent from your patient or his guardians; on our side, we guarantee strictest confidentiality in respect of law and regulations and of medical ethics. Clinical information and radiographs are best sent to Dr. Unger, Prof. Bonafé or Prof. Superti-Furga (see page "Our team").

Once the radiographs and clinical information have been reviewed and a possible or probable diagnosis has been reached, the diagnosis can be confirmed by molecular testing (see page Which Diagnostic Materials?) .

A confirmed diagnosis is needed to make a prognosis, to screen for possible complications, to plan for treatment options, and to counsel the affected individual and his family on educational and professional choices. It is also the basis for genetic counseling and discussion of the options for reproductive choices and prenatal testing, if desired by the family.