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

Overview

Journal Am J Med Genet A

Specialty Genetics

Date 2010 Apr 2

PMID 20358606

Citations 2

Authors

Gulen Eda Utine

Jeroen Breckpot

Bernard Thienpont

Yasemin Alanay

Cemalettin Aksoy

Koray Boduroglu

Koenraad Devriendt

Affiliations

Soon will be listed here.

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.

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