Peters-Plus syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the B3GLCT gene and characterized by multisystem involvement. Fewer than 100 cases have been reported to date, and only a limited number have been diagnosed prenatally. Prenatal identification is challenging due to the variable and non-specific nature of fetal findings and the frequent absence of detectable ocular anomalies during routine ultrasound. We report a prenatal diagnosis of Peters-Plus syndrome in a monochorionic diamniotic twin pregnancy, based on the progressive identification of early-onset intrauterine growth restriction, rhizomelic limb shortening, craniofacial dysmorphism, and mild central nervous system abnormalities. Standard cytogenetic and chromosomal microarray analyses were normal, prompting extended genetic testing. Prenatal exome sequencing identified a homozygous pathogenic splice-site variant (c.660+1G>A) in B3GLCT in both fetuses, confirming the diagnosis. This case highlights the importance of recognizing suggestive multisystem prenatal findings and the crucial role of advanced genetic testing in achieving an accurate prenatal diagnosis. Early molecular confirmation enables appropriate parental counseling regarding prognosis, recurrence risk, and future reproductive options.

Twin anemia–polycythemia sequence (TAPS) in monochorionic twin pregnancies is a potentially serious complication caused by unidirectional vascular anastomoses in the placenta, resulting in one anemic donor twin and one polycythemic recipient twin. Diagnosis of this condition is achieved through Doppler ultrasound assessment of the difference between the MoM of the peak systolic velocity of the middle cerebral artery between the twins, establishing the diagnosis with a delta value >0.5 MoM. Management of this situation is individualized and may include intrauterine transfusions, intrauterine laser treatment, and expectant management through ultrasound monitoring of both fetuses to prevent complications. In severe cases, pregnancy termination may be necessary. It is essential that these pregnancies are managed by a multidisciplinary team of professionals, including obstetricians specialized in fetal medicine and neonatologists, to ensure the best possible outcome for both the mother and the fetuses. Early detection and treatment are crucial in the management of pregnancies complicated by twin anemia–polycythemia sequence. The main objective of this article is to conduct a review of the existing literature on the anemia–polycythemia sequence in monochorionic pregnancies, emphasizing the exceptional nature of the presented case due to its spontaneous occurrence, which has a very low prevalence compared to post-laser TAPS cases. It also discusses the different treatment options, highlighting the importance of expectant management and individualization in each case.

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.