A Second Patient With Tsukahara Syndrome: Type A1 Brachydactyly, Short Stature, Hearing Loss, Microcephaly, Mental Retardation, and Ptosis


ÜTİNE G. E. , Breckpot J., Thienpont B., ALANAY Y., Aksoy C., BODUROĞLU O. K. , ...More

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.4, pp.947-949, 2010 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: Issue: 4
  • Publication Date: 2010
  • Doi Number: 10.1002/ajmg.a.33325
  • Title of Journal : AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Page Numbers: pp.947-949

Abstract

In 1989, Tsukahara and colleagues described a single female with a provisionally unique pattern of malformation consisting of low intelligence, short stature, brachydactyly type A1, and characteristic facial features. We report on a second patient confirming Tsukahara syndrome as an established entity. (C) 2010 Wiley-Liss, Inc.