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

被引：3

作者：

Potrony, Miriam ^{[1
,2
,3
]}

Borrell, Antoni ^{[2
,4
,5
]}

Masoller, Narcis ^{[2
,4
,5
]}

Nadal, Alfons ^{[3
,6
,7
]}

Rodriguez-Carunchio, Leonardo ^{[6
,8
]}

de Gordoa Elizalde, Karmele Saez ^{[6
]}

Francisco Quesada-Espinosa, Juan ^{[9
,10
]}

Luis Villanueva-Canas, Jose ^{[11
]}

Pauta, Montse ^{[3
,4
,5
]}

Jodar, Meritxell ^{[1
,3
]}

Madrigal, Irene ^{[1
,2
,3
]}

Badenas, Celia ^{[1
,2
,3
]}

Isabel Alvarez-Mora, Maria ^{[1
,2
,3
]}

Rodriguez-Revenga, Laia ^{[1
,2
,3
]}

机构：

[1] Hosp Clin Barcelona, Biochem & Mol Genet Dept, Barcelona 08036, Spain

[2] Inst Salud Carlos III, CIBER Rare Dis CIBERER, Madrid 28029, Spain

[3] Inst Invest Biomed August Pi i Sunyer IDIBAPS, Barcelona 08036, Spain

[4] Univ Barcelona, BCNatal, Barcelona Ctr Maternal Fetal & Neonatal Med, Hosp Clin, Barcelona 08007, Spain

[5] Univ Barcelona, Hosp St Joan de Deu, Inst Clin Ginecol Obstet & Neonatol Fetal, I D Fetal Med Res Ctr, Barcelona 08007, Spain

[6] Hosp Clin Barcelona, Pathol Dept, Biomed Diagnost Ctr, Barcelona 08036, Spain

[7] Univ Barcelona, Med Sch, Dept Basic Clin Practice, Barcelona 08007, Spain

[8] Univ Vic Cent Univ Catalonia UVic UCC, Med Dept, Barcelona 08500, Spain

[9] 12 Octubre Univ Hosp, Genet Dept, Madrid 28041, Spain

[10] 12 Octubre Univ Hosp, UDISGEN Unidad Dismorfol & Genet, Madrid 28041, Spain

[11] Hosp Clin Barcelona, Mol Biol CORE CDB, Barcelona 08036, Spain

来源：

JOURNAL OF CLINICAL MEDICINE | 2022年 / 11卷 / 13期

关键词：

GLDN; arthrogryposis multiplex congenita; fetal akinesia deformation sequence; GLIOMEDIN; NODES; GUIDELINES; MUTATIONS; COMPONENT; AKINESIA; RANVIER;

D O I：

10.3390/jcm11133570

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：12

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