Article
Dysmorphic syndromes with overgrowth - systematic review, part 2: chromosomal and epigenetic disorders and disorders associated with dynamic mutations.
Pediatric endocrinology, diabetes, and metabolism - 1 Jan 2026
Gąsiorowska Julia, Grundys Amelia, Gawlik Laura, Dziamara Weronika, Śmigiel Robert, Wikiera Beata
Abstract excerpt
INTRODUCTION: Dysmorphic syndromes are characterised by congenital anomalies affecting craniofacial features, body proportions, and organ structure. They are frequently caused by complex genetic alterations, including deletions, duplications, and microdeletions, which impede optimal growth regulation. AIM OF THE STUDY: The objective of this paper is to present a synopsis of selected dysmorphic syndromes...
Topics
- Humans
- Epigenesis, Genetic
- Mutation
- Syndrome
- Chromosome Disorders
- Growth Disorders
- Craniofacial Abnormalities
- Chromosome Aberrations