LES DYSPLASIES SPONDYLO-EPIPHYSAIRES CHEZ L'ENFANT. A PROPOS D'UNE NOUVELLE OBSERVATION COLLIGEE A L'UNITE DE DYSMORPHOLOGIE - SERVICE DE PEDIATRIE 2 - HER.

Abstract

Spondyloepiphyseal dysplasia represent a heterogeneous group of rare, genetically inherited skeletal disorders of constitutional origin. They primarily affect the growth and development of the skeleton, particularly the spine and epiphyseal regions of long bones. These conditions are characterized by wide genetic, clinical, and radiological variability. SED cause skeletal deformities and are frequently associated with extra-skeletal manifestations, such as myopia, hearing loss, or Pierre Robin sequence. Major complications include early-onset hip osteoarthritis and odontoid hypoplasia. Diagnosis is based on clinical assessment, imaging studies, and genetic testing. This study aims to describe the epidemiological, pathophysiological, diagnostic, therapeutic, and prognostic features of SED. It also highlights practical aspects of genetic counseling to optimize the management of patients and their families. We report the case of a 7 year old girl, an only child, attending school, born to first-cousin parents with no known family history of similar conditions and normal psychomotor development. She has been followed since the age of 2 for a limping gait, with no relevant personal medical history. The diagnosis of spondyloepiphyseal dysplasia was made based on clinical and medical imaging findings that demonstrated dysplastic involvement of the hips with arthropathy, platyspondyly and cervical instability. The care was conducted within a multidisciplinary and interprofessional setting, focusing primarily on symptomatic treatment and regular clinical and radiological monitoring. In light of the literature and this clinical case, the authors emphasize the importance of : - Early diagnosis to initiate appropriate treatment and prevent complications. - Multidisciplinary and interprofessional care, involving health professionals, rehabilitation therapists and psychologists, with the aim of improving the quality of life of patients. - The establishment of registers for the documentation of these pathologies and the promotion of scientific research.