4.7 Review

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

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

Annie Laquerriere et al.

Summary: In this study, genetic diagnosis was achieved in 52.7% of AMC index patients, with the identification of nine newly discovered genes. The primary cause of AMC was determined to be skeletal muscle involvement (40%), with autosomal recessive inheritance being the most frequent mode (66.3%). In sporadic cases born to non-consanguineous parents, de novo dominant autosomal or X linked variants were observed in 50% of cases.

JOURNAL OF MEDICAL GENETICS (2022)

Article Biochemistry & Molecular Biology

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Aida M. Bertoli-Avella et al.

Summary: Despite the technical superiority of genome sequencing (GS) over other diagnostic methods, limited studies have been conducted on its clinical application advantages. This study analyzed 1007 consecutive cases where GS was performed clinically, showing a high diagnostic yield and highlighting the importance of GS for ES-negative cases due to its access to noncoding regions and more uniform coverage.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

Article Genetics & Heredity

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Gina Ravenscroft et al.

Summary: This study utilized genome-wide sequencing to accurately diagnose 81 out of 190 cases, identifying novel variants and phenotypic expansions associated with specific genes. Comprehensive gene panels proved to be effective in diagnosing a significant proportion of fetal akinesia and arthrogryposis cases.

JOURNAL OF MEDICAL GENETICS (2021)

Article Obstetrics & Gynecology

Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita

Jill K. Tjon et al.

Summary: This study presents a care pathway for fetal joint contracture disorders, including motor assessment by ultrasound and genetic examinations. The pathway consists of multiple steps aimed at providing comprehensive and parent-friendly care.

FETAL DIAGNOSIS AND THERAPY (2021)

Article Genetics & Heredity

The genomic and clinical landscape of fetal akinesia

Matthias Pergande et al.

GENETICS IN MEDICINE (2020)

Article Genetics & Heredity

Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome

Theresa Reischer et al.

PRENATAL DIAGNOSIS (2020)

Review Obstetrics & Gynecology

Arthrogryposis multiplex congenita in utero: radiologic and pathologic findings

Priya Skaria et al.

JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (2019)

Review Genetics & Heredity

Classification of arthrogryposis

Judith G. Hall et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2019)

Article Genetics & Heredity

Gene ontology analysis of arthrogryposis (multiple congenital contractures)

Jeff Kiefer et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2019)

Article Pathology

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

Samuel W. Baker et al.

JOURNAL OF MOLECULAR DIAGNOSTICS (2019)

Article Developmental Biology

Prevalence of Multiple Congenital Contractures Including Arthrogryposis Multiplex Congenita in Alberta, Canada, and a Strategy for Classification and Coding

R. Brian Lowry et al.

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2010)

Article Cell Biology

Secreted gliomedin is a perinodal matrix component of peripheral nerves

Yael Eshed et al.

JOURNAL OF CELL BIOLOGY (2007)

Article Biochemistry & Molecular Biology

Cleavage and oligomerization of gliomedin, a transmembrane collagen required for node of Ranvier formation

Barbara Maertens et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)