Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome?

Area of Science:

• Genetics
• Pediatrics
• Orthopedics

Background:

• Lowry-Wood syndrome is a rare genetic disorder characterized by specific physical and developmental features.
• Previous descriptions of Lowry-Wood syndrome have not emphasized joint dislocations as a primary diagnostic sign.

Observation:

• A 17-year-old male presented with microcephaly, short stature, multiple epiphyseal dysplasia, and tapetoretinal degeneration.
• The patient exhibited bilateral restricted elbow extension, genu valgum (knock knees), hip dislocation, radial head absence, and lateral patellar dislocations.
• Radiographic findings confirmed severe hip and proximal femoral epiphyseal dysplasia, alongside radial and patellar dislocations.

Findings:

• Conventional karyotyping (46,XY) and array-based comparative genomic hybridization (aCGH) revealed no significant chromosomal abnormalities, with identified copy number variants deemed likely benign.
• Despite normal genetic testing, the constellation of symptoms strongly suggested Lowry-Wood syndrome.

Implications:

• Multiple joint dislocations, particularly patellar dislocations, may represent an underrecognized clinical feature of Lowry-Wood syndrome.
• This case expands the phenotypic spectrum associated with Lowry-Wood syndrome, aiding in earlier diagnosis and management.
• Further research is warranted to elucidate the genetic underpinnings and refine diagnostic criteria for Lowry-Wood syndrome.