Introduction: congenital spondyloepiphyseal dysplasia, a type of bone dysplasia manifest from the infancy stage, is caused by mutations in the COL2A1 gene, located on chromosome 12, causing defects in type II collagen, a major component of cartilage. This type of collagen is also found in the vitreous body of the eye and in the intervertebral discs. This disease is characterized by low size to predominance of the thorax, being short by the serious platyspondilia that causes the deformities.
Clinical case: a 12-year-old patient presented a deformity of the lumbar spine from the age of 6 months. It presents low size with thoracic deformity, widening in the joint of elbows and knees. The family was asked to authorize several radiological studies, as well as physical examination and to take photos that would aid in the clinical diagnosis.
Conclusions: Considering the importance of multidisciplinary follow-up between orthopedic, radiologist and clinical geneticist to make a correct diagnosis. Achieving the same thanks to the use of an effective tool, clinical or pattern method. This allowed to offer an adequate monitoring and genetic counseling to this family
