A case report of Larsen syndrome – A rare genetic disorder affecting the musculoskeletal system

Abstract

Background

Larsen syndrome is an extremely rare genetic disorder with craniofacial abnormalities, and multiple dislocations of large joints. It can also involve various other systems causing hearing loss, cardio-respiratory and visual problems. Here, we illustrate a case report of this genetic syndrome while also outlining the treatment and follow up.

Case report

A 26-year-old female, with history of congenital bilateral hip dislocation, difficulty in walking and abnormal craniofacial features was brought to us with persistent lower back pain for a duration of 12 years. She had a low birth weight, facial dysmorphism, hypotonia and was put on plaster casts for congenital bilateral hip dislocations. She had recurrent ear and respiratory infections in childhood. Her intelligence was normal and the family history was negative for genetic and bone diseases. She was evaluated, and treated conservatively based on the assessment of benefits outweighing the risks by a multidisciplinary approach.

Conclusion

The diagnosis of Larsen syndrome can be a challenging one because of limited availability of literature. Understanding the need and interest of the patient is of utmost important. The multidisciplinary approach is the key to patient satisfaction. It is imperative that more literature evidences should be gathered on this topic on specific management of spinal deformities and their complications.