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Costello syndrome: report and review
A M van Eeghen1, I van Gelderen, R C Hennekam
1Emma Kinderziekenhuis AMC, Department of Pediatrics, University of Amsterdam, The Netherlands.
Abstract:
We describe a 34-year-old woman with mental retardation, short stature, macrocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palmar and plantar creases who had evident Costello syndrome. Lacking papillomata, she had wart-like lesions of the skin. The previously reported patients with Costello syndrome are reviewed. Costello syndrome is probably an autosomal dominant disorder, either caused by a mutation in a single gene or by microdeletion.
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