Wiedemann-Steiner syndrome: three further cases.

Am J Med Genet A 2010 Sep;152A(9):2372-5

Institut für Humangenetik der Johann Wolfgang Goethe Universität, Frankfurt, Germany.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33587DOI Listing
September 2010
147 Reads

Publication Analysis

Top Keywords

wiedemann-steiner syndrome
8
philtrum thin
4
thin upper
4
lip stubby
4
long philtrum
4
upper lip
4
broad nasal
4
narrow palpebral
4
palpebral fissures
4
fissures broad
4
stubby hands
4
bridge long
4
feet hirsutism
4
expand phenotype
4
phenotype wiedemann-steiner
4
syndrome delineate
4
delineate entity
4
patients expand
4
retardation patients
4
hypertelorism narrow
4

Similar Publications