Abstract
A 13-year-old boy presented with the overall phenotypic and genotypic characterisation of Schwarz-Jampel syndrome (SJS). Windswept deformity was a major orthopaedic abnormality. Prompt diagnostic measures were applied to this patient associated with several orthopaedic procedures to move closer to acceptable appearance and function.
Highlights
The term “windswept deformity” describes the appearance of an abnormal valgus deformity in one knee in association with varus in the other
Prompt diagnostic measures were applied to this patient associated with several orthopaedic procedures to move closer to acceptable appearance and function
It is commonly seen in young children in certain parts of Africa, and it develops secondary to metabolic bone diseases
Summary
A 13-year-old boy presented with the overall phenotypic and genotypic characterisation of Schwarz-Jampel syndrome (SJS).
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