Describes a potentially novel aplastic patella syndrome variant.
May expand the differential for congenital patellar absence; leaves open genetic characterization and syndromic classification.
A 20-year-old man with bilateral absence of patella, thinness of the left femoral neck, femoral and tibial shaft was reported. This clinical presentation has not been reported in the English language literature. We propose that the unusual association observed in our patient may represent a distinguishing clinical presentation from previously reported aplastic patella syndromes.
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Bïlgïç et al. (2009) studied this question.
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