A Case of Bainbridge-Ropers Syndrome in a Child
1. Health Science Center, Ningbo University, Ningbo 315211, China
2. Department of Pediatrics, Women and Children’s Hospital of Ningbo University, Ningbo 315012, China
| Abstract: | Bainbridge-Ropers syndrome (BRPS) is a rare autosomal dominant multisystem developmental disorder caused by loss-of-function variants in the additional sex combs-like 3 (ASXL3) gene. With few cases reported worldwide, its clinical manifestations during infancy lack specificity, rendering it highly susceptible to missed diagnosis and misdiagnosis.This paper reports the clinical diagnosis and treatment process of a child with BRPS. Through integration of genetic testing results, pathological characteristics analysis, and a literature review, this article discusses explore the clinical features, diagnostic key points, and management strategies of this disease. The patient is a 5-month-and-8-day-old male infant, admitted with the chief complaint of "feeding difficulty for 5 months, aggravated in the past 3 days." He presented with pauses during feeding and frequent choking since the neonatal period, accompanied by chronically inadequate milk intake. Physical examination revealed slow weight gain and developmental delay compared with age-matched peers. After completing relevant examinations, infectious diseases, anatomical gastrointestinal malformations, cow’s milk protein allergy and common metabolic disorders were excluded. Whole-exome high-throughput sequencing identified a heterozygous variant c.3380_3381insT (p.R1128Pfs*22) in the additional sex combs-like 3 (ASXL3) gene. Combined with the clinical phenotype and imaging manifestations, the findings met the diagnostic criteria for BRPS. Currently, the infant is receiving nasogastric tube feeding at home, but vomiting and reflux remain significant during feeding, with poor responsiveness. By analyzing the clinical characteristics and genetic test results of this case along with a systematic literature review, this study aims to enhance clinicians' understanding of the disease and improve early diagnostic ability, facilitate timely genetic testing in children suspected of developmental delay with intractable feeding difficulties, and support early recognition of BRPS as well as long-term standardized symptomatic intervention. |
| Keywords: | Bainbridge-Ropers Syndrome; Children; ASXL3 Gene; Genetic Diagnosis; Developmental Delay |
| DOI: | 10.57237/j.wjcm.2026.02.002 |
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Received: 22 June 2026
Accepted: 21 July 2026
Published Online: 5 August 2026
Funding
| 1. | 宁波市公益科技计划项目 (No. 2023S097) |
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