Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 152A, Issue 9, Pages 2372-2375Publisher
WILEY
DOI: 10.1002/ajmg.a.33587
Keywords
mental retardation syndrome; hypertelorism; hypertrichosis; short hands and feet
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We describe three patients with a syndrome comprising arched, thick eyebrows, hypertelorism, narrow palpebral fissures, broad nasal bridge and tip, long philtrum, thin upper lip, stubby hands and feet, hirsutism, and severe psychomotor retardation. These patients expand the phenotype of the Wiedemann-Steiner syndrome and delineate it as an entity. (C) 2010 Wiley-Liss, Inc.
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