RT Journal Article
T1 Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report
A1 Fortún-Agud, Marina
A1 Monís-Rodríguez, Susana
A1 Narbona-Arias, Isidoro
A1 Andérica-Herrero, José Ramón
A1 Gómez-Muñoz, Cristina
A1 Blasco-Alonso, Marta
A1 Jiménez-López, Jesús Salvador
K1 Diagnóstico prenatal
K1 Obstetricia
AB Peters-Plus syndrome is a rare autosomal recessive disorder caused by biallelic pathogenicvariants in the B3GLCT gene and characterized by multisystem involvement. Fewer than100 cases have been reported to date, and only a limited number have been diagnosedprenatally. Prenatal identification is challenging due to the variable and non-specific natureof fetal findings and the frequent absence of detectable ocular anomalies during routineultrasound. We report a prenatal diagnosis of Peters-Plus syndrome in a monochorionic diamniotictwin pregnancy, based on the progressive identification of early-onset intrauterinegrowth restriction, rhizomelic limb shortening, craniofacial dysmorphism, and mild centralnervous system abnormalities. Standard cytogenetic and chromosomal microarray analyseswere normal, prompting extended genetic testing. Prenatal exome sequencing identifieda homozygous pathogenic splice-site variant (c.660+1G>A) in B3GLCT in both fetuses,confirming the diagnosis. This case highlights the importance of recognizing suggestivemultisystem prenatal findings and the crucial role of advanced genetic testing in achievingan accurate prenatal diagnosis. Early molecular confirmation enables appropriate parentalcounseling regarding prognosis, recurrence risk, and future reproductive options.
PB MDPI
SN 2075-1729
YR 2026
FD 2026-01-08
LK https://hdl.handle.net/10630/44676
UL https://hdl.handle.net/10630/44676
LA eng
NO Fortún Agud M, Monís Rodríguez S, Narbona Arias I, Andérica Herrero JR, Gómez Muñoz C, Blasco Alonso M, Jiménez López JS. Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report. Life. 2026; 16(1):92. https://doi.org/10.3390/life16010092
DS RIUMA. Repositorio Institucional de la Universidad de Málaga
RD 4 mar 2026