Mandibulofacial dysostosis with limb malformations (Nager's acrofcial dysostosis)

Abstract

A 13-year-old boy with malar and mandibular hypoplasia, abnormal ears, short soft palate, retarded growth, mild deformities of the elbow joints, hypoplasia of the right thumb and partial agenesis of the left thumb is described. Similar cases have been reported under the heading of mandibulofacial dysostosis. Separate classification under the heading "Nager's acrofacial dysostosis" serves to emphasize the specific association of a first arch syndrome with limb defects, particularly radial, although nosologic identity of MFD and AFD has not been excluded.