• 作者：M.L. Martí ; nez-Ferná ; ndez^a ; ^b ; E. Bermejo^a ; ^b ; ^c ; M.L. Martí ; nez-Frí ; as^a ; ^b ; ^d ; ^e ; ^{mlmartinez.frias@isciii.es}
• 关键词：Sí ; ndromes de microdeleci&oacute ; n ; Hibridaci&oacute ; n in situ con fluorescencia ; Hibridaci&oacute ; n gen&oacute ; mica comparada ; Guí ; as diagnosticas
• 刊名：SEMERGEN - Medicina de Familia
• 出版年：2010
• 期刊代码：pca342_11383593
• 类别：med
• 出版时间：December 2010
• 卷：36
• 期：10
• 页码：573-578
• 文件大小：409 K

It is not always possible to establish the diagnosis of a newborn with congenital defects. In general, this is due to several main reasons: a) because the group of clinical signs that they show are still of an unknown cause; b) because the already known syndromes are such a low frequency that they are not easy to recognise when there is no previous experience; c) because there is no specificity between a cause and a defect; d) because some only present with dysmorphic characteristics that can only be assessed by someone with wide experience since the majority of these characteristics are found in the general healthy population; and e) because many of them appear over time, appearing normal at birth. However, it is now known that some of these syndromes are caused by changes due to the loss of chromosome portions so small that they are not detected by high resolution cytogenetics (they are cryptic for these techniques), or to known mutations in certain genes.

As many of these children will present with their signs during childhood and are going to be seen by Primary Care doctors, it is essential that small guises are available to recognise them and manage them appropriately.

This article explains the different forms of presentation, their technical characteristics by which they can be diagnosed, as well as the symptoms that may make us aware of these syndromes and how to act. The prognosis very much depends on early identification and information to the family.