Costello syndrome: Report and review

Agnies M. van Eeghen, Ietje van Gelderen, Raoul C. M. Hennekam

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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.
Original languageEnglish
Pages (from-to)187-193
JournalAmerican Journal of Medical Genetics
Issue number2
Publication statusPublished - 1999
Externally publishedYes

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