Orthopaedic manifestations in a case of Lenz microphthalmia syndrome

Lenz microphthalmia syndrome is an X-linked recessive disorder characterized by microphthalmia and dental, urogenital, and skeletal anomalies. This case report represents the first detailed account of congenital kyphoscoliosis in the Lenz microphthalmia literature.

We present a case of Lenz microphthalmia syndrome with progressive kyphosis, spinal stenosis, and late-onset tibia vara along with many of the typical features of the disorder. In addition, we provide insight into the syndrome by reviewing the existing Lenz microphthalmia literature.

Congenital kyphoscoliosis that is prone to reoccurrence after posterior spinal fusion is an unusual entity that may be associated with Lenz microphthalmia.

We recommend close monitoring and early surgical intervention with posterior spinal fusion for congenital kyphosis in patients diagnosed with Lenz microphthalmia syndrome. However, more data on similar patients are necessary to define the optimal treatment strategy. LEVEL OF EVIDENCE (FOR CLINICAL ARTICLES): Level V.