Fibrodysplasia ossificans progressiva Arare paediatric disorder

Case report


Nuri M Shembesh, Suliman Bargathy, Ali Shieba, Jamal Mansour and Asma Johary

Department of Paediatrics, Faculty of Medicine, Garyounis University, Benghazi, Libya

JMJ Vol.4 No. 2 (Autumn) 2005: 142-145


Fibrodysplaia ossificans progressiva (FOP) is an extremely rare autosomal dominant form of connective tissue disorder, with complete penetrance and variable expression,most of cases represent new mutation.Incidence of the disease is 0.1-0.6 per million. We report a 33 month- old male libyan child, with bilateral hallux varus and disabling heterotopic osteogenesis in predictable anatomical patterns, occuring spontaneously or after trauma, started at the neck and over time, these heterotopic formations progressed more distally and caudally with resulting restriction of neck mobility and limited movements in other anatomical areas. Therapeutic measures are essentially preventive and aimed at reducing the impact of trauma and falls and iatrogenic complications. The case is discussed with review of the literature.

Keywords: Fibrodysplasia ossificans progressiva, Hallux Varus, Rrestricted neck movments, Muscle biopsy, Etodronate treatment