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ISSN 1561-3194 (Electronic)

2016, Number 4

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Rev Ciencias Médicas 2016; 20 (4)

Nager syndrome: a case report

Santana HEE

Language: Spanish
References: 10
Page: 515-518
PDF size: 158.26 Kb.


ABSTRACT

The acrofacial dysostosis includes a heterogeous group of diseases with radial hypoplasia, it is named Nager syndrome, which has a low not defined incidence. This syndrome is characterized by presenting a peculiar facie, accompanied by congenital defects involving radius bone; a few very severely affected individuals have shortened upper limbs (phocomelia). In this work a patient presenting phenotypic features associated with this syndrome is described. A medical literature review was conducted making possible to diagnose this condition providing genetic counseling as well.


REFERENCES

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