Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Details

Serval ID
serval:BIB_9DFD90B994C1
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Journal
Genes
Author(s)
Pollazzon M., Caraffi S.G., Faccioli S., Rosato S., Fodstad H., Campos-Xavier B., Soncini E., Comitini G., Frattini D., Grimaldi T., Marinelli M., Martorana D., Percesepe A., Sassi S., Fusco C., Gargano G., Superti-Furga A., Garavelli L.
ISSN
2073-4425 (Electronic)
ISSN-L
2073-4425
Publication state
Published
Issued date
23/12/2021
Peer-reviewed
Oui
Volume
13
Number
1
Pages
29
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Abstract
The term "arthrogryposis" is used to indicate multiple congenital contractures affecting two or more areas of the body. Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and development. The causes of arthrogryposis are multiple, and in newborns, it is difficult to predict the molecular defect as well as the clinical evolution just based on clinical findings. We studied a consecutive series of 13 participants who had amyoplasia, distal arthrogryposis (DA), or syndromic forms of arthrogryposis with normal intellectual development and other motor abilities. The underlying pathogenic variants were identified in 11 out of 13 participants. Correlating the genotype with the clinical features indicated that prenatal findings were specific for DA; this was helpful to identify familial cases, but features were non-specific for the involved gene. Perinatal clinical findings were similar among the participants, except for amyoplasia. Dilatation of the aortic root led to the diagnosis of Loeys-Dietz syndrome (LDS) in one case. The phenotype of DA type 5D (DA5D) and Escobar syndrome became more characteristic at later ages due to more pronounced pterygia. Follow-up indicated that DA type 1 (DA1)/DA type 2B (DA2B) spectrum and LDS had a more favorable course than the other forms. Hand clenching and talipes equinovarus/rocker bottom foot showed an improvement in all participants, and adducted thumb resolved in all forms except in amyoplasia. The combination of clinical evaluation with Next Generation Sequencing (NGS) analysis in the newborn may allow for an early diagnosis and, particularly in the DAs, suggests a favorable prognosis.
Keywords
Abnormalities, Multiple/genetics, Adolescent, Adult, Arthrogryposis/genetics, Child, Child, Preschool, Conjunctiva/abnormalities, Female, Genotype, Humans, Loeys-Dietz Syndrome/genetics, Male, Malignant Hyperthermia/genetics, Middle Aged, Mutation/genetics, Pedigree, Phenotype, Pregnancy, Pterygium/genetics, Skin Abnormalities/genetics, Escobar syndrome, amyoplasia, arthrogryposis, differential diagnosis, distal arthrogryposis, genetic testing, multiple pterygium syndrome (MPS), prognosis
Pubmed
Web of science
Open Access
Yes
Create date
31/01/2022 12:46
Last modification date
02/03/2022 7:34
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