Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review

• Published in: Journal of clinical medicine Vol. 11; no. 13; p. 3570
• Main Authors: Potrony, Miriam, Borrell, Antoni, Masoller, Narcís, Nadal, Alfons, Rodriguez-Carunchio, Leonardo, Saez de Gordoa Elizalde, Karmele, Quesada-Espinosa, Juan Francisco, Villanueva-Cañas, Jose Luis, Pauta, Montse, Jodar, Meritxell, Madrigal, Irene, Badenas, Celia, Alvarez-Mora, Maria Isabel, Rodriguez-Revenga, Laia
• Format: Journal Article
• Language: English
• Published: Basel MDPI AG 01-07-2022; MDPI
• Subjects: Akinesia; Case Report; Case reports; Cell adhesion & migration; Clinical medicine; Congenital diseases; Edema; Fetuses; Genetic counseling; Genomes; Genotype & phenotype; Gestational age; Literature reviews; Pregnancy; Ultrasonic imaging; Umbilical cord; United States > US
• ISSN: 2077-0383; 2077-0383
• DOI: 10.3390/jcm11133570

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.