Diagnostic Steps

Diagnosis of genetic skeletal diseases requires several elements such as family history, personal history, clinical examinations, blood biochemistry, and radiographic images of the skeleton. These are often the single most important element in making a precise diagnosis. Modern radiography uses digital systems that are highly sensitive, thereby reducing exposure. The radiographic images can be transmitted with email or internet to experts. With all elements available, a preliminary diagnosis can be made. this diagnosis can in many cases be confirmed by specific biochemical or genetic tests. Expertise in the diagnosis of skeletal dysplasias and dysostoses requires skills in pediatrics, genetics and radiology. This expertise is found in specialized centers. Nowadays, experts can be reached through electronic communication at sites such as www.esdn.org (European Skeletal Dysplasia Network) or www.skeldys.org (this site).


Clinical examination should be done by a paediatrician or clinical geneticist. Length or standing height, weight, head circumference and proportions (arm span, sitting height, subischial leg length) are useful. Information on skin, nails, hair, ears and hearing, eyesight, palatal cleft and teeth, heart auscultation, size of liver and spleen, and genital organs is desirable. Joint laxity or restriction should be noted. History of recurrent disease or infections, chronic or recurrent pain, abdominal symptoms or failure to thrive should also be mentioned if present. Finally, a history of development and school performance is part of the clinical assessment. Available laboratory results should be mentioned.


Radiographic examination should include at least the following views: cranium (anteroposterior and lateral views), cervical spine, spine (AP and lat), pelvis AP, one arm, one leg, both hands AP, both knees AP. The radiographic images can be transmitted either by mail (for hard copies) or by email or web (with security precautions such as removal of personal data).

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