Familial Autosomal Dominant Brachydactyly Using 3D Surface Rendering and Multiplanar Reconstruction

Abstract

This case report demonstrates a normal fetuswith familial autosomal dominantbrachydactyly. The sonographic examination used 3Dsurface rendering and multiplanarreconstruction. The mother had a personal as well as familyhistory of the inherited anomaly.

Keywords

brachydactyly autosomal dominant inheritance 3D imaging

References

1. Kahn CE Jr (ed): Chorus: Collaborative of Hypertext of Radiology: Musculoskeletal System, Brachydactyly.February 6, 1995. Retrieved from http://chorus.rad.mcw.edu

2. Bell J : On brachydactyly and symphalangism, in PenroseLS (ed): Treasury of Human Inheritance. Cambridge,UK, Cambridge University Press , 1951, pp 1–31.

3. Gao B , Guo J , She C , Shu A , Yang M , Tan Z , et al: Mutations in IHH, encoding Indian hedgehog, causebrachydactyly type A-1 . Nature Genet 2001;28: 386–388 .

4. Mastrobattista JM , Dolle P , Blanton SH , Northrup H : Evaluation of candidate genes for familial brachydactyly .J Med Genet 1995;32(11): 851–854 .

5. Pergament E , Fiddler M : The genetics of cancer resourcecenter: autosomal dominant inheritance. Retrieved from http://www.intouchlive.com/cancergenetics/ad.htm