Photo Credit: Lidiia Moor

The following is a summary of “Obstetrics and neonatal outcomes of Binder phenotype with antenatal diagnosis: a case report and literature review,” published in the August 2024 issue of Obstetrics and Gynecology by Bosco et al.

Binder Phenotype (BP) is a distinctive form of maxillo-nasal dysplasia characterized by a flattened nose, verticalized nasal bones, and maxillary retrusion, collectively referred to as the BP triad. This facial anomaly may occur in isolation or be associated with various genetic and acquired conditions. The objective of this systematic review was to consolidate and analyze the antenatal findings, maternal and obstetric characteristics, and both obstetric and neonatal outcomes of cases diagnosed with BP in utero. 

In accordance with the PRISMA guidelines, the researchers systematically reviewed the literature to identify all antenatally diagnosed cases of BP. The investigators extracted and summarized the obstetric and neonatal characteristics from each study, including the case report. The review identified 47 cases of BP, with a median gestational age at diagnosis of 23 weeks. Notably, BP was associated with other skeletal or non-skeletal anomalies in all but six cases, which were confirmed to be isolated instances of BP. Respiratory distress syndrome was observed in 12 neonates, and in 18 cases, BP was found to be a clinical feature of chondrodysplasia punctata X-linked (CDPX1). The findings indicate that while BP is frequently associated with other fetal defects, isolated BP generally correlates with favorable obstetric and neonatal outcomes. For fetuses diagnosed with isolated BP at mid-trimester, genetic testing, such as fluorescence in situ hybridization (FISH) for ARSE gene deletion, can be considered for diagnosing CDPX1, whereas exome sequencing may be more effective for cases with suspected syndromic conditions. 

Despite its association with higher risks of respiratory distress syndrome and feeding difficulties, BP alone does not appear to lead to significantly adverse outcomes when isolated.

Source: sciencedirect.com/science/article/pii/S2468784724001156