Advertisement!
Author Information Pack
Editorial Board
Submit article
Special Issue
Editor's selection process
Join as Reviewer/Editor
List of Reviewer
Indexing Information
Most popular articles
Purchase Single Articles
Archive
Free Online Access
Current Issue
Recommend this journal to your library
Advertiser
Accepted Articles
Search Articles
Email Alerts
FAQ
Contact Us
Indian Journal of Anatomy

Volume  2, Issue 1, January - June 2013, Pages 53-56
 

Case Report

Type-E Brachydactylous Family: Autosomal Dominant Inheritance with Variable Expression and Non-Penetrance

N.P. Patil*, S.S. Dhapate**

*Assistant professor, **Prof. and H.O.D. , Department of Anatomy, SRTR Medical College, Ambajogai, Maharashtra, India.

Choose an option to locate / access this Article:
90 days Access
Check if you have access through your login credentials.        PDF      |
|

Open Access: View PDF

DOI:

Abstract

The word brachydactyly is used to describe the hands and feet with shortened digits. Autosomal dominant brachydactyly Type-E (BDE) is a congenital limb malformation characterized by shortened digits in hands and feet predominantly as a result of shortened metacarpals and metatarsals . A 45 yrs old female presented with shortened 4th toe bilaterally with no other complaints.The 4th metatarsals were shortened bilaterally, rest other metatarsals, tarsals and phalanges appeared normal on X-ray examination.On family history there was positive history of similar brachydactyly of 4th toe bilaterally in her paternal grandfather and unilateral brachydactyly of 4th toe in her son. These features match approximately with isolated Type-E Brachydactyly. Type-E brachydactyly always inherited as an autosomal dominant trait.In present study when pedigree was plotted it was found that though the brachydactylous trait inherited as autosomal dominant , IInd generation showed nonpenetrance of the concerned trait while same was appeared in the IIIrd generation and the same trait showed variable expression in IVth generation which is rarely observed. Isolated brachydactyly has excellent prognosis and the role of surgical correction is limited only for cosmetic purpose in the present case. 

Keywords: Brachydactyly; Toes; Autosomal dominant; Non-penetrance; Variable expression.


Corresponding Author : N.P. Patil*