Nager syndrome

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

Eyelid coloboma

A short discontinuity of the margin of the lower or upper eyelid.


Total: 1

                       


(per page)
PMID (PMCID)
18000904
 MALE Infant, Newborn
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.
Sermer D, Quercia N, Chong K, Chitayat D.
Am J Med Genet A. 2007;143A(24):3286-9.
The severity of the upper limb defects, the involvement of lower limbs, and the absence of eyelid coloboma and polythelia excluded the possibility of other conditions associated with acrofacial dysostosis (AFD) including Nager acrofacial dysostosis syndrome (NADS) and postaxial acrofacial dysostosis syndrome (POADS).