2026-04-13T06:54:18Zhttps://recercat.cat/oai/request

oai:recercat.cat:2445/1912652026-01-17T01:23:25Zcom_2072_1057col_2072_478824col_2072_478858col_2072_478917

00925njm 22002777a 4500 dc Potrony Mateu, Míriam author Borrell, Antoni author Masoller Casas, Narcís author Nadal Serra, Alfons author Rodriguez-Carunchio, Leonardo author Saez de Gordoa Elizalde, Karmele author Quesada Espinosa, Juan Francisco author Villanueva Cañas, José Luis author Pauta, Montse author Jodar Bifet, Meritxell author Madrigal Bajo, Irene author Badenas Orquin, Celia author Álvarez Mora, María Isabel author Rodríguez Revenga, Laia author 2022-11-29T17:36:43Z 2022-11-29T17:36:43Z 2022-06-21 2022-11-29T17:36:43Z Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report a fetus with ultrasound alterations detected at 28 weeks of gestation. The fetus exhibited hydrops, short long bones, fixed limb joints, absent fetal movements, and polyhydramnios. The pregnancy was terminated and postmortem studies confirmed the prenatal findings: distal arthrogryposis, fetal growth restriction, pulmonary hypoplasia, and retrognathia. The fetus had a normal chromosomal microarray analysis. Exome sequencing revealed two novel compound heterozygous variants in the GLDN associated with LCCS11. This manuscript reports this case and performs a literature review of all published LCCS11 cases. Fetus Malformacions del fetus Anomalies cromosòmiques Expressió gènica Atròfia muscular Fetus Foetus malformations Chromosome abnormalities Gene expression Muscular atrophy Lethal congenital contracture syndrome 11: A case report and literature review