Assistant Professor, Comprehensive General Medicine and Clinical Genetics, Provincial Center of Medical Genetics, Cuba.

Received Date: May 22, 2019
Published Date: Jun 28, 2019

Corresponding Author: Elayne Esther Santana Hernandez* Assistant Professor, Comprehensive Child Care, Comprehensive General Medicine and Clinical Genetics, Provincial Center of Medical Genetics, Holguin, Cuba.

Copyright © 2019 Hernandez EES

Citation: Hernandez EES. (2019). Dyscondrosteosis of Léri-Weill: Presentation of an Affected Family. Mathews J Pediatr. 4(1): 17.

 

ABSTRACT

Background: Léri-Weil dyschondrosteosis, bone dysplasia of genetic origin that affects the mesomelic region with shortening of the extremities, causing short stature with short limbs with deformity of madelung. This disease shows an autosomal dominant pattern of inheritance with high penetrance.

Presentation: a family with sick in three generations with Madelung deformity of both dolls and short stature of mesomelic origin.

Conclusion: The physical and radiological examination essential to reach the clinical diagnosis. The clinical method is of great value to define this genetic disease and to provide adequate genetic counseling to this family.DeCS: BONE DISPLSIA, MESOMÉLICO SHORTENING, LOW SIZE GENETIC ORIGIN

Keywords: Dyschondrosteosis; Léri-Weill’s disease; Deformation of madelung; Mesomelic dwarfism.