RARE GENETIC DISEASES RELATED TO BRACHYDACTYLY

Karaca, А. (2016) RARE GENETIC DISEASES RELATED TO BRACHYDACTYLY. Scientific-Practical Journal of Medicine, "Vestnik KazNMU" (4). ISSN 2524 - 0692

Text RARE GENETIC DISEASES RELATED TO BRACHYDACTYLY.pdf Download (791kB)

Abstract

Brachydactyly (BD) refers to the shortening of the hands, feet or both, and it has a clinical spectrum ranging from minor digital hypoplasia to complete aplasia. The index and small fingers are the most commonly affected digits, and the middle phalanx is the most commonly affected bone. It is inherited in autosomal dominant manner and has reduced penetrance and variable expressivity. The various types of isolated brachydactyly are rare, except for types A3 and D. Brachydactyly can occur either as an isolated malformation or as a part of a complex malformation syndrome. The nature of genetic counseling will depend on the pattern of inheritance of the type of brachydactyly present in the family and on the presence or absence of accompanying symptoms. Thus this review, summarizes the physical and molecular details about different types of brachydactyly and aims to serve as a collective review as a reference to refer.

Item Type:	Article
Uncontrolled Keywords:	Brachydactyly (BD), Genetics; Hand abnormalities; Foot abnormalities; Congenital bone malformations
Subjects:	Материалы семинаров и конференций > Материалы семинаров и конференций КазНМУ
Divisions:	Научно-практический журнал "Вестник КазНМУ" > Выпуск №4 2016 год
Depositing User:	Mr Askhat Zhakaev
Date Deposited:	06 Jun 2018 11:12
Last Modified:	06 Jun 2018 11:12
URI:	http://repository.kaznmu.kz/id/eprint/15131

Actions (login required)

View Item