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nail-patella syndrome

 

Definition: a skeletal disorder characterized by absence or hypoplasia of the patella, iliac horns, dysplasia of the fingernails and toenails, and thickening of the glomerular lamina densa; the lower ends of the femur have a shape very similar to Erlenmeyer flask deformity; autosomal dominant inheritance, caused by mutation in the gene encoding LIM-homeodomain protein (LMX1B) on chromosome 9q.

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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