2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report

• Main Authors: Estephania Candelo (Author), Sebastian Giraldo-Ocampo (Author), Julian Nevado (Author), Pablo Lapunzina (Author), Harry Pachajoa (Author)
• Format: Book
• Published: BMC, 2024-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background The 2q31 deletion results in a distinct phenotype characterized by varying degrees of developmental delay, short stature, facial dysmorphism, and variable limb defects. Dysmorphic features include microcephaly, downslanting palpebral fissures, a long and flat philtrum, micrognath...