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2017, Number 3

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Rev Cub Gen 2017; 11 (3)

Weaver syndrome. Two cases reports

Chiong QCM, Trull MA, Carbonell PD, Figueredo TN

Language: Spanish
References: 23
Page: 51-55
PDF size: 320.68 Kb.


ABSTRACT

Weaver syndrome is a genetic disorder described by Weaver and cols in 1974. It is characterized by pre and postnatal overgrowth, acceleratedbone age, macrocephaly, typical facial features, speech and motor delays. This phenotype is due to mutations in the gene EZH2, located on chromosome 7q36. Two male toddlers aged 21 months and 2 years-7 month of age were clinically dignosed as isolated cases of Weaver syndrome. Sotos and Marshall Smith syndromes share some common features, but are due to different genes. The importance of the clinic method for low prevalent conditions where the molecualr test is not always available was higligthed. Head circumference and biparietal diameter increasedfor gestational age togeher with other parameters of fetal macrosomia could be prenatal ultrasonographics signs suggestive of Weaver syndrome or other conditions with overgrowth. Early diagnosis is vital for the adequate management of these patients, therefore the identification of the characteristics that distinguish this syndrome from other overgrowth syndromes is very important for the genetic counselling of the family and for the integration of affected individuals to society in order to improve their quality of life.


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