Nager's acrofacial dysostosis with hypertrophic cardiomyopathy.
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.
Kahrom
Mahdi
M
Division of Human Genetics, Immunology Research Center, Bu-Ali Research Institute, Mashhad, Iran.
Abbaszadegan
Mohammad R
MR
Kahrom
Hadi
H
Vakili
Rahim
R
D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging*; D003394:Craniofacial Dysostosis / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital; D008297:Male; D011859:Radiography; D013577:Syndrome