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Wiedemann–Steiner syndrome: Three further cases
Author(s) -
Koenig Rainer,
Meinecke Peter,
Kuechler Alma,
Schäfer Dieter,
Müller Dietmar
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33587
Subject(s) - palpebral fissure , hypertelorism , dermatology , medicine , upper lip , philtrum , hirsutism , anatomy , pathology , insulin resistance , polycystic ovary , obesity
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. © 2010 Wiley‐Liss, Inc.