Kahrom Mahdi, Abbaszadegan Mohammad R, Kahrom Hadi, Vakili Rahim
Division of Human Genetics, Immunology Research Center, Bu-Ali Research Institute, Mashhad, Iran.
Saudi Med J. 2006 Oct;27(10):1578-81.
Nager syndrome is a rare condition associated with craniofacial malformations such as, micrognathia, zygomatic hypoplasia, external ear malformations, and preaxial limb deformities. This report features a case of Nager syndrome occurring in a one-year-old boy showing microretrognathia, thumb hypoplasia, brachydactyly, hexadactyly, and hypertrophic cardiomyopathy, characteristics not usually encountered in published cases.
