Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report

Peters-Plus syndrome is a rare autosomal recessive disorder characterized by multisystem involvement, with a primary manifestation in the anterior segment of the eye. The hallmark feature, Peters anomaly, presents as central corneal opacity with iridocorneal adhesions. Clinically, patients often exhibit the classic triad of anterior chamber defects, short stature, and brachydactyly, accompanied by craniofacial dysmorphisms such as cleft lip and/or palate, hypertelorism, and short palpebral fissures, as well as variable intellectual disability. Skeletal abnormalities include rhizomelic limb shortening, clinodactyly, and restricted growth, frequently responsive to growth hormone therapy. Additional manifestations may involve congenital heart defects, genitourinary anomalies, and endocrine disturbances such as hypothyroidism. Prenatal growth restriction is common, and structural brain anomalies can occasionally be present, though they do not consistently correlate with neurodevelopmental outcomes. Diagnosis is suspected based on characteristic clinical findings and confirmed through the identification of biallelic pathogenic variants in the B3GLCT gene. Genetic counseling is essential due to the autosomal recessive inheritance pattern. Management is individualized, including early corneal transplantation between 3–6 months to prevent amblyopia, treatment of glaucoma or cataracts, and multidisciplinary follow-up addressing ophthalmologic, endocrine, neurologic and developmental needs. Prognosis varies widely depending on the severity of ocular and systemic involvement. This overview underscores the importance of early recognition, genetic confirmation, and comprehensive, patient-centered care in optimizing outcomes for individuals with Peters-Plus syndrome.