Nager acrofacial dysostosis: a rare genetic disorder causing bilateral temperomandibular joint ankylosis in a 10-year-old girl

Nager acrofacial dysostosis: a rare genetic disorder causing bilateral temperomandibular joint ankylosis in a 10-year-old girl.

To cite: Kumar MH, Kumar MS, Kumar VS, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2015-212949 DESCRIPTION A 10-year-old girl presented to the oral medicine department, with restricted mouth opening since childhood. Her family history revealed that she was the third child born of a consanguineous marriage. She was born after an unremarkable pregnancy, ...

A Case Report: Nager Acrofacial Dysostosis

INTRODUCTION Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inheritanc...

A Case Report: Nager Acrofacial Dysostosis

Introduction: Nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. The cause of the abnormal development of the pharyngeal arches in Nager syndrome is unknown. It is also unclear why affected individuals have bone abnormalities in their arms and legs. Nager syndrome is thought to have an autosomal recessive inherita...

Acrofacial dysostosis 1, Nager type

Autosomal recessive inheritance of Nager acrofacial dysostosis.

Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The recognition of this syndrome as a dis...