Work

Prenatal diagnosis of Donnai–Barrow syndrome (LRP2-related) following recurrent fetal structural anomalies in a consanguineous family: a clinical report

Year: 2026

Type: article

Abstract: To report the prenatal diagnosis of Donnai–Barrow syndrome in a consanguineous family with recurrent fetal structural anomalies. A 22-year-old gravida 4, para 3 woman was referred at 23 weeks because ultrasound showed agenesis of the corpus callosum, hypertelorism, nasal bone hypoplasia, abnormal facial profile, and diastematomyelia. Owing to recurrent similarly affected pregnancies and consanguinity, amniocentesis and prenatal whole-exome sequencing were performed. A homozygous pathogenic LRP2 frameshift variant, c.13139dupG (p.Cys4381Metfs*12), was identified; both parents were heterozygous carriers. The pregnancy was terminated, and postmortem examination showed midface hypoplasia, depressed nasal bridge, downslanting palpebral fissures, and limb anomalies. Donnai–Barrow syndrome should be considered when midline brain anomalies coexist with craniofacial dysmorphism, particularly in consanguineous or recurrently affected families. Prenatal exome sequencing enables timely molecular diagnosis and reproductive counseling.

Source: BMC Pregnancy and Childbirth

DOI: 10.1186/s12884-026-09852-1

Authors: Osman Ince, Cem Dagdelen, Tugçe Tunc Acar, Can Dinç, Omer Faruk Oz, Inanc Mendilcioglu

Institution: Akdeniz University

Language: English

Topic: Prenatal Screening and Diagnostics

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,290