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

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

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...

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Bibliographic Details
Main Authors: Estephania Candelo, Sebastian Giraldo-Ocampo, Julian Nevado, Pablo Lapunzina, Harry Pachajoa
Format: Article
Language:English
Published: BMC 2024-10-01
Series:BMC Pediatrics
Subjects:
Facial dysmorphism
2q31-q32 microdeletion
Array CGH
Velocardiofacial syndrome
Online Access:https://doi.org/10.1186/s12887-024-04843-7

Internet

https://doi.org/10.1186/s12887-024-04843-7

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