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

• मुख्य लेखकों: Estephania Candelo (लेखक), Sebastian Giraldo-Ocampo (लेखक), Julian Nevado (लेखक), Pablo Lapunzina (लेखक), Harry Pachajoa (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2024-10-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...