The Fate of Fetuses with Binder's Facies: A Retrospective Study on Prenatal Ultrasound Perspective, Pregnancy Outcome, and Postnatal Confirmation

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Objective Binder's syndrome (maxillonasal dysplasia) is a rare congenital condition marked by midface hypoplasia, a flat nasal bridge, and a reduced frontonasal angle. While it can be isolated, it is often linked to genetic syndromes, skeletal disorders, or teratogenic exposures. Its exact antenatal incidence is unknown but estimated at < 1 in 10,000 live births. This study evaluates pregnancy outcomes in fetuses diagnosed with Binder's facies on second/third-trimester ultrasound. Methods Seventeen pregnant women diagnosed with Binder's facies on ultrasound and who underwent prenatal invasive testing were reviewed at All India Institute of Medical Sciences (AIIMS), New Delhi, between August 2020 and January 2025. Outcomes of invasive testing, antenatal follow-up, birth outcomes, neonatal phenotype, and current child health status were analyzed. Results Of the 17 pregnant women carrying fetuses diagnosed with Binder's facies, 16 were diagnosed antenatally and one postnatally. Additional anomaly scan findings were noted in 9 cases, including: echogenic intracardiac focus, premature ossification of the coccyx, bilateral ventriculomegaly, premature tarsal and proximal femur epiphyseal ossification, clefting of lower dorsal vertebrae, and cyanotic congenital heart disease. Prenatal genetic testing was opted for by 14 patients. Amniocentesis after genetic counseling had normal karyotype. Four underwent chromosomal microarray analysis, revealed no significant copy number variants. Whole-exome sequencing was performed in five cases with additional ultrasound findings, revealing: likely compound heterozygous variants of uncertain significance in the FAT4 and HSD17B4 genes, an ATG mutation associated with Van Maldergem syndrome. Pregnancy outcomes: 16 patients chose to continue their pregnancy, of which one had an intrauterine demise at term, and one opted for medical termination of pregnancy at 25 weeks. All had uneventful deliveries. Neonatal outcomes: 12 out of 15 live-born neonates had a flat nasal bone at birth. All children are alive at the time of reporting, with no significant physical morbidity. Conclusion This study highlights that Binder's facies, though rare, is recognizable on prenatal ultrasound and generally has a better prognosis when isolated. Early detection using two-dimensional/three-dimensional ultrasound is reliable, with postnatal findings correlating well. Pregnancy outcomes depend on syndromic associations, and multidisciplinary care, including genetic counseling and craniofacial surgery, may be needed postnatally. Publication History Article published online: 31 December 2025 © 2025. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/) Thieme Medical and Scientific Publishers Pvt. Ltd. A-12, 2nd Floor, Sector 2, Noida-201301 UP, India

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