Literature DB >> 519896

The Aarskog (facio-digito-genital) syndrome.

J J Hoo.   

Abstract

A kindred with the Aarskog Syndrome (facio-digito-genital syndrome) is presented. The favorable outcome of this syndrome in terms of final height, intelligence and life expectancy is emphasized. It is pointed out that cleft lip and cleft pastic dermatoglyphic pattern includes simian creases and distal axial tiriradii. The pedigree analysis from 14 known kindreds strongly suggests an X-linked recessive mode of inheritance. It is noteworthy that the female carriers frequently showed varying and milder expression of the syndrome, especially in their facies and hands.

Entities:  

Mesh:

Year:  1979        PMID: 519896     DOI: 10.1111/j.1399-0004.1979.tb00999.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  3 in total

Review 1.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

2.  Aarskog syndrome.

Authors:  M E Porteous; D R Goudie
Journal:  J Med Genet       Date:  1991-01       Impact factor: 6.318

3.  Cerebrovascular disease associated with Aarskog-Scott syndrome.

Authors:  Michael L Diluna; Nduka M Amankulor; Michele H Johnson; Murat Gunel
Journal:  Neuroradiology       Date:  2007-02-10       Impact factor: 2.995

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.