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Gaceta Médica Espirituana

On-line version ISSN 1608-8921

Abstract

SANTANA HERNANDEZ, Elayne Esther  and  GONZALEZ ANTA, Ana María. Léri-Weill dyschondrosteosis. Presentation of an affected family. Gac Méd Espirit [online]. 2020, vol.22, n.2, pp.111-119.  Epub Aug 02, 2020. ISSN 1608-8921.

Background:

Léri-Weill dyschondrosteosis, bone dysplasia of genetic origin that affects the mesomelic region with shortening of the extremities, causes short stature with short extremities with Madelung deformity.This disease shows an autosomal dominant inheritance pattern with high penetrance.

Objective:

To describe the deformities of this low frequency dyschondrosteosis with variable expressivity which was presented in the same way in all those affected in this family.

Case presentation:

A family with sick members was reported in three generations with Madelung deformity of both wrists and short stature of mesomelic origin which is followed up in consultations of Clinical Genetics and Orthopedics.

Conclusion:

The essential physical and radiological examination to reach the clinical diagnosis. The clinical method and the multidisciplinary assessment were of great value to define this disease and to be able to provide adequate genetic counseling to this family.

Keywords : Dyschondrosteosis; Léri-Weill disease; Madelung deformation; mesomelic dwarfism; lipomatosis; multiple symmetrical/genetics; fibrous dysplasia of bone/genetics; mesomélico shortening; low size genetic origin; upper extremity deformities congenital/genetics; forearm/abnormalities; wrist/abnormalities.

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