Case Reports
doi: 10.1002/ajmg.a.33587.
Wiedemann-Steiner syndrome: three further cases
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- PMID: 20803650
- DOI: 10.1002/ajmg.a.33587
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Case Reports
Wiedemann-Steiner syndrome: three further cases
Am J Med Genet A.
2010 Sep.
Abstract
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.
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