Medina-Salas A, Carranza-Alva CA

Language: Spanish
References: 13
Page: 89-92
PDF size: 180.94 Kb.

ABSTRACT

Introduction: Roberts syndrome (pseudothalidomide or phocomelia) is a genetic origin disorder, its main clinical features are severe shortening of the limbs (phocomelia), predominantly in upper limbs, oligodactyly, syndactyly or clinodactyly, sometimes accompanied by lip and palate, microcephaly, hypertelorism, exophthalmos, corneal opacities, as well as dysplastic ears. Also has other defects, as congenital heart disease and cystic kidneys. Case presentation: We report the case of a 1 year 11 months old Mexican female who has delayed neurodevelopment and growth, cleft palate, thoracic limbs with short arms and forearms, feet show hypoplasia of the second and third toe and syndactyly, congenital heart disease (ventricular septal defect), however with negative cytogenetic study of premature separation of centromeres. Conclusion: There is not enough literature on this syndrome in Mexico, and there is no national or international literature that is related to its management by medical rehabilitation, which is of great importance and encourage their reporting lines of research, as a guideline for diagnosis and timely multidisciplinary treatments to improve the development and function of patients with Roberts syndrome. Objective: To expose a very little review case in Mexico and how the Rehabilitation Service can intervene.

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