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Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms.
Ioannis Kyriakidis1, Iordanis Pelagiadis1, Nikolaos Katzilakis1
1Department of Pediatric Hematology-Oncology & Autologous Hematopoietic Stem Cell Transplantation Unit, University Hospital of Heraklion & Laboratory of Blood Diseases and Childhood Cancer Biology, School of Medicine, University of Crete, 71003 Heraklion, Greece.
Pediatric Reports
|March 24, 2025
Summary
Macrodactyly, a rare overgrowth condition, was investigated in a teen with autism and dysmorphic features. Genetic testing revealed a 16p11.2 duplication, not PIK3CA mutations, highlighting the need for comprehensive diagnosis.
Area of Science:
- Genetics
- Developmental Biology
- Clinical Medicine
Background:
- Macrodactyly, also known as digital gigantism, is a rare congenital overgrowth disorder affecting digits.
- This case involved a 16-year-old male presenting with macrodactyly, lipomas, nevi, dysmorphic features, and autism, raising suspicion for a Proteus-like syndrome.
