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Genetics in medicine : official journal of the American College of Medical Genetics
To provide diagnostic guidance for individuals with lateralized overgrowth (LO) and implement appropriate screening protocols. LO without a syndromic presentation is considered idiopathic isolated lateralized overgrowth (ILO).
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We performed a literature search of LO syndromes and malignancy risk and reviewed existing guidelines and expert input.
We integrated 940 unique articles to form recommendations. We defined LO as significantly larger length and/or girth of aspect(s) of one side of the body compared with its contralateral side. It can be associated with somatic overgrowth syndromes. ILO was previously defined based on clinical features and deemed idiopathic by absence of molecular findings. Much of the tumor risk is likely because of specific LO syndromic causes now identified through improved diagnostic technologies; therefore, the tumor risk in idiopathic ILO is likely lower than previously accepted.
Mosaicism complicates molecular diagnosis for children with LO. However, conditions such as Beckwith-Wiedemann spectrum and PTEN-related hamartoma tumor syndrome necessitate routine tumor screening. Establishing a specific diagnosis via comprehensive molecular testing on affected tissue will guide screening and management. In cases of idiopathic ILO, location of the overgrowth, estimation of tumor risk, regional practice approaches and family concerns all play roles in determining tumor screening.
Published by Genetics in medicine : official journal of the American College of Medical Genetics, 2025. The PDF is shown as published and remains the work of its authors and publisher; the original is at the source linked here. Rights holders can ask us to remove a file at info@prognia.nl.
Prognia summarises this guideline for reference and education. It is not medical advice. Always check the official guideline and current local protocols before acting on it.
