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Approach to the Diagnosis of Overgrowth Syndromes
1Nottingham Regional Clinical Genetics Service, Nottingham University Hospitals NHS Trust, The Gables, City Hospital Campus, Hucknall Road, Nottingham, NG5 1PB, UK. mohnish.suri@nuh.nhs.uk.
Abstract:
Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay or intellectual disability, congenital anomalies, neurological problems and an increased risk of neoplasia. Recent advances in understanding the genetic basis of overgrowth syndromes has resulted in a move away from clinical classification to molecular classification of overgrowth syndromes. This review provides a structured clinical approach to patients with this group of disorders and includes most of the currently known overgrowth syndromes.
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