Fetal Isolated Binder Phenotype versus Chondrodysplasia Punctata: Why Does It Matter?
Monday, April 8, 2024
5:16pm – 5:26pm
Location: 406
Authors: Minh-Huy Huynh, Children's Hospital of Philadelphia Mohamed Mohamed, CHOP Edward Oliver, Children's Hospital of Philadelphia Shelly Soni, The Children’s Hospital of Philadelphia Olga Gitman, CHILDREN'S HOSPITAL OF PHILADELPHIA Beverly Coleman, Radiology Associates CHOP ,
In this study, researchers aimed to distinguish between two fetal conditions characterized by nasomaxillary hypoplasia: isolated Binder phenotype and chondrodysplasia punctata (CDP). They conducted an extensive investigation spanning from 1993 to 2023, identifying cases through a single-center database search and classifying them into isolated Binder phenotype, CDP, or exclusion categories. Results revealed that fetuses with isolated Binder phenotype experienced favorable postnatal outcomes, while those with CDP required complex multidisciplinary postnatal care, facing issues like airway management, feeding difficulties, hearing impairments, and mobility challenges. This study stresses timely identification and informed prenatal counseling, particularly crucial for CDP cases, often requiring specialized tertiary care centers with Neonatal Intensive Care Units (NICU) and Ear, Nose, and Throat (ENT) support.