Santana HEE, Rodríguez FEG

Language: Spanish
References: 0
Page: 90-94
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ABSTRACT

Rickects is a disturbance caused by a lack of vitamine D, calcium or phosphorus which leads to bone softening and weakening. Resistant rickects are a heterogeneous group of diseases so called because they show clinical and radigraphic characteristics which are typical of a deficency rickects, there is no response to tretament with vitamine D. Among these it is found Hypophosphatemic rickects which is a genetic disease and may present with various disorders. A case of a 3 year old girl referred to the genetic consultation due to short size and deformity in both legs. After questioning and physical examination a radiologic and blood chemestry study was performed resulting in the diagnosis of this disease. It is considered valuable to make a timely diagnosis which favours the follow up and treatment in a multidispline team, allowing, in addition, to provide genetic advisory to relatives. These are the reasons for this case presentation.