Acrofacial dysostosis: a case report

ABSTRACT

dysostosis(AFD) is a rare heterogenous disorders combining varying severities of mandibulofacial dysostosis(MFD) with pre and/or post axial limb abnormalities. The Nager syndrome is characterized by preaxial limb defects whereas Miller syndrome is characterized by post axial limb defects. Our AFD case is a 14-year old female. She showed malar hypoplasia, cleft lip & palate(Rt, Lt side), wide nasal bridge, telecanthus. Her right thumb was abscent and middle phalanx, radius, carpal bones of right hand were hypoplastic, and metatarsus varus was present. She showed normal stature and intelligence.