Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation

A second patient with Tsukahara syndrome

A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis

✍ Gülen Eda Utine; Jeroen Breckpot; Bernard Thienpont; Yasemin Alanay; Cemalettin 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB 👁 1 views

## 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 est