Nager syndrome: a case report
Keywords:
Dysostosis, Mandibulofacial dysostosis, Congenital abnormalities.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.
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