Universitary Hospital Necker Enfants Malades, Orthopaedic Department, Paris, France
Universitary Hospital Kremlin Bicêtre, Orthopaedic Department, Le Kremlin-Bicêtre, France
Corresponding author: Marine De Tienda, Universitary Hospital Necker Enfants Malades, Orthopaedic Department, 149 rue de Sèvres, 75015 Paris, France. Tel.: +33 613204642; E-mail: [email protected].
Abstract: PURPOSE:Multiple synostoses syndrome (MSS) is a rare genetic condition. Classical features consist of joint fusions which notably start at the distal phalanx of the hands and feet with symphalangism progressing proximally to carpal, tarsal, radio-ulnar, and radio-humeral joints, as well as the spine. Usually, genetic testing reveals a mutation of the NOG gene with variable expressivity. The goal was to present the anatomical, functional, and radiological presentations of MSS in a series of patients followed since childhood. METHODS:Patients with more than 3 synostoses affecting at least one hand joint were included. When possible, genetic screening was offered. RESULTS:A retrospective study was performed from 1972 to 2017 and included 14 patients with a mean follow-up of 18.6 years. Mutation of the NOG protein coding gene was seen in 3 patients. All presented with tarsal synostoses including 9 carpal, 7 elbow, and 2 vertebral fusions. Facial dysmorphia was seen in 6 patients and 3 were hearing-impaired. Surgical treatment of tarsal synostosis was performed in 4 patients. Progressing joint fusions were invariably seen on x-rays amongst adults. CONCLUSION:Long radiological follow-up allowed the assessment of MSS progression. Feet deformities resulted in a severe impact on quality of life, and neurological complications secondary to spine fusions warranted performing at least one imaging study in childhood. As there is no treatment of ankylosis, physiotherapy is not recommended. However, surgical arthrodesis for the treatment of pain may have reasonable outcomes.