Association of ring chromosome 18 and Prader-Willi syndrome: the first described case report

Our case contributes to a better understanding of the clinical presentation of complex aberrations of chromosome 18 and that of PWS. The main common clinical features of this association were a moderate dysmorphic syndrome, hypotonia, grade II obesity with severe OSA, mild cognitive deficit with learning difficulties, and a discreet scoliosis. Diagnosis and management of this complex disorder require a multidisciplinary approach. The primary focus for those patients is to enhance their quality of life and prevent any potential complications.