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Clin Dysmorphol. 2000 Oct;9(4):265-8.

Costello syndrome: a cancer predisposing syndrome?

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  • 1Divisione di Neuropsichiatria Infantile, Istituto Nazionale Neurologico C.Besta, Milan, Italy.


Costello Syndrome is a specific MCA/MR syndrome mainly characterized by dysmorphic facial features, peculiar biphasic growth pattern, motor and mental retardation, ectodermal anomalies involving skin and nails, and age dependent development of nasal and perianal papillomata. Heart malformations and/or hypertrophic cardiomyopathy are frequently observed. We report a 4-year-old girl with Costello syndrome who developed an intrathoracic ganglioneuroblastoma. In previous reports two patients with ectodermal tumours have been described, a ganglioneuroblastoma of the adrenal gland and an epithelioma. This third report suggests that neural crest neoplasia may be a significant risk factor for children with Costello syndrome.

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