Wiedemann–Steiner syndrome: Three further cases

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 Wiedeman...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2010-09, Vol.152A (9), p.2372-2375
Main Authors: Koenig, Rainer, Meinecke, Peter, Kuechler, Alma, Schäfer, Dieter, Müller, Dietmar
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Adult and adolescent clinical studies
Biological and medical sciences
Child
Child, Preschool
Dermatology
Face - abnormalities
Female
Foot Deformities, Congenital
Hair and nails disorders
Hand Deformities, Congenital
Humans
hypertelorism
hypertrichosis
Intellectual deficiency
Intellectual Disability
Male
Medical genetics
Medical sciences
mental retardation syndrome
Psychology. Psychoanalysis. Psychiatry
Psychomotor Disorders
Psychopathology. Psychiatry
short hands and feet
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Summary: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.
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.33587