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2020, Number 2

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Gaceta Médica Espirituana 2020; 22 (2)

Léri-Weill dyschondrosteosis. Presentation of an affected family

Santana HEE, González AAM

Language: Spanish
References: 11
Page: 111-119
PDF size: 225.21 Kb.


ABSTRACT

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.


REFERENCES

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