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.
Always consult your healthcare provider to ensure the information displayed on this page applies to your personal circumstances.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.
Search Stedman's Medical Dictionary
Examples: glitazone, GI cocktail, etc.