Nager syndrome

A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

Humeroradial synostosis

An abnormal osseous union (fusion) between the radius and the humerus.


合計: 1

                       


（表示件数）
PMID (PMCID)
30924273
 OTHER
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.
Drivas TG, Taylor JA, Zackai EH.
Am J Med Genet A. 2019;179(6):1063-1068.
The finding of bilateral humeroradial synostosis had not been seen in cases of Nager syndrome before and we considered other diagnoses.