Nager's acrofacial dysostosis with hypertrophic cardiomyopathy

Authors

• Mahdi Kahrom, Division of Human Genetics, Immunology Research Center, Bu-Ali Research Institute, Mashhad, Iran.
• Mohammad R. Abbaszadegan, Division of Human Genetics, Immunology Research Center, Bu-Ali Research Institute, Mashhad, Iran.
• Hadi Kahrom, Division of Human Genetics, Immunology Research Center, Bu-Ali Research Institute, Mashhad, Iran.
• Rahim Vakili, Division of Human Genetics, Immunology Research Center, Bu-Ali Research Institute, Mashhad, Iran.

Abstract

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.

Article Type

Case Report

First Page

1578

Last Page

1581

Recommended Citation

Kahrom, Mahdi; Abbaszadegan, Mohammad R.; Kahrom, Hadi; and Vakili, Rahim (2006) "Nager's acrofacial dysostosis with hypertrophic cardiomyopathy," Saudi Medical Journal: Vol. 27: Iss. 10, Article 24.
DOI: https://doi.org/10.15537/1658-3175.3636