Exploring the association between congenital vertebral malformations and neural tube defects
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AbstractCongenital vertebral malformations (CVMs) and neural tube defects (NTDs) are common birth defects affecting the spine and nervous system, respectively, due to defects in somitogenesis and neurulation. Somitogenesis and neurulation rely on factors secreted from neighbouring tissues and the integrity of the axial structure. Crucial signalling pathways like Wnt, Notch and planar cell polarity regulate somitogenesis and neurulation with significant crosstalk. While previous studies suggest an association between CVMs and NTDs, the exact mechanism underlying this relationship remains unclear. In this review, we explore embryonic development, signalling pathways and clinical phenotypes involved in the association between CVMs and NTDs. Moreover, we provide a summary of syndromes that exhibit occurrences of both CVMs and NTDs. We aim to provide insights into the potential mechanisms underlying the association between CVMs and NTDs, thereby facilitating clinical diagnosis and management of these anomalies.
All Author(s) ListYongyu Ye, Jianan Zhang, Xin Feng, Chong Chen, Yunbing Chang, Guixing Qiu, Zhihong Wu, Terry Jianguo Zhang, Bo Gao, Nan Wu
Journal nameJournal of Medical Genetics
Year2023
Month12
Volume Number60
Issue Number12
PublisherBMJ Publishing Group
Pages1146 - 1152
ISSN0022-2593
eISSN1468-6244
LanguagesEnglish-United Kingdom
Keywordsglobal health, nervous system malformations, orthopedics

Last updated on 2024-29-11 at 15:49