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

作者：Utine Guelen Eda^*; Breckpot Jeroen; Thienpont Bernard; Alanay Yasemin; Aksoy Cemalettin; Boduroglu Koray; Devriendt Koenraad

来源：American Journal of Medical Genetics, Part A, 2010, 152A(4): 947-949.

DOI：10.1002/ajmg.a.33325

• tsukahara syndrome
• type A1 brachydactyly
• short stature
• microcephaly
• mental retardation and ptosis

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.

• 出版日期2010-4