Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms
The clinical management of syndromic macrodactyly is well described by consensus guidelines, but isolated macrodactyly also needs pediatricians' attention and warrants a multidisciplinary approach. After reviewing the literature, a diagnostic algorithm for the approach and differential diagnosis of macrodactyly is provided. Phenotypes associated with PI3K/AKT/mTOR pathway mutations (including PIK3CA-related overgrowth spectrum PROS) are described. Late effects, follow-up schedules, and surveillance for cancer are discussed.
Authors
- Iordanis Pelagiadis (ORCID: https://orcid.org/0000-0001-5737-3770)
- Eftichia Stiakaki (ORCID: https://orcid.org/0000-0002-3343-5110)
- Nikolaos Katzilakis (ORCID: https://orcid.org/0000-0002-0421-7712)
- Ioannis Kyriakidis (ORCID: https://orcid.org/0000-0002-8153-9643)
Institutions
- University of Crete (GR)
- University Hospital of Heraklion (GR)
Publication Details
- Journal
- Pediatric Reports
- Published
- 2025-03-07
- DOI
- https://doi.org/10.3390/pediatric17020032
- Primary Topic
- Vascular Malformations and Hemangiomas
- Type
- article
- Field-Weighted Citation Impact
- 0.00