ACROFACIAL DYSOSTOSIS : A CASE REPORT

사지안면골형성부전증(Acrofacial Dysostosis) 환자의 증례보고

  • Lee, Byeong-Do (Dept. of Oral & Maxillofacial Radiology, College of Dentistry, Wonkwang University)
  • 이병도 (원광대학교 치과대학 구강악안면방사선학교실)
  • Received : 1999.03.10
  • Accepted : 1999.04.13
  • Published : 1999.06.30

Abstract

The acrofacial 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.

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