Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/191265
Title: | Lethal congenital contracture syndrome 11: A case report and literature review |
Author: | Potrony Mateu, Míriam Borrell, Antoni Masoller Casas, Narcís Nadal Serra, Alfons Rodriguez-Carunchio, Leonardo Saez de Gordoa Elizalde, Karmele Quesada Espinosa, Juan Francisco Villanueva Cañas, Jose Luis Pauta, Montse Jodar Bifet, Meritxell Madrigal Bajo, Irene Badenas Orquin, Celia Álvarez Mora, María Isabel Rodríguez Revenga, Laia |
Keywords: | Fetus Malformacions del fetus Anomalies cromosòmiques Expressió gènica Atròfia muscular Fetus Foetus malformations Chromosome abnormalities Gene expression Muscular atrophy |
Issue Date: | 21-Jun-2022 |
Publisher: | MDPI |
Abstract: | 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. |
Note: | Reproducció del document publicat a: https://doi.org/10.3390/jcm11133570 |
It is part of: | Journal of Clinical Medicine, 2022, vol. 11, num. 13, p. 3570 |
URI: | http://hdl.handle.net/2445/191265 |
Related resource: | https://doi.org/10.3390/jcm11133570 |
ISSN: | 2077-0383 |
Appears in Collections: | Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) Articles publicats en revistes (Fonaments Clínics) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
726335.pdf | 1.14 MB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License