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Indian Journal of Anatomy

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Case Report

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

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

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Indian Journal of Anatomy 2(1):p 53-56, January - June 2013. | DOI:

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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.

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