Article ; Online: Prenatal diagnosis of non-typical Chiari malformation type I associated with de novo Nuclear Factor I A gene mutation: a case report.
Journal of medical case reports
2024 Volume 18, Issue 1, Page(s) 90
Abstract: Background: Chiari malformation is one of the most common Central nervous system (CNS) abnormalities that can be detected in routine fetal scanning. Chiari malformation type I (CMI) is a congenital defect characterized by a displacement of the ... ...
Abstract | Background: Chiari malformation is one of the most common Central nervous system (CNS) abnormalities that can be detected in routine fetal scanning. Chiari malformation type I (CMI) is a congenital defect characterized by a displacement of the cerebellar tonsils through the foramen magnum. The etiology of CMI has not been well established and suggested having multifactorial contributions, especially genetic deletion. Clinical characteristics of this anomaly may express in different symptoms from neurological dysfunction and/or skeletal abnormalities in the later age, but it is rarely reported in pregnancy. Case presentation: We present a case in which the Chiari malformation type I was diagnosed with comorbidities of facial anomalies (flatting forehead and micrognathia) and muscular-skeletal dysmorphologies (clenched hands and clubfeet) at the 24 Conclusion: CMI may only represent with facial abnormalities and muscle-skeletal malformations at the early stage of pregnancy, which may also alert an adverse outcome. A novel heterozygous NFIA gene mutation identified after birth helps to confirm prenatal diagnosis of CMI and to provide an appropriate consultation. |
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MeSH term(s) | Male ; Pregnancy ; Female ; Infant, Newborn ; Humans ; Adult ; Arnold-Chiari Malformation/diagnosis ; Arnold-Chiari Malformation/genetics ; NFI Transcription Factors/genetics ; Prenatal Diagnosis ; Amniocentesis ; Mutation ; Magnetic Resonance Imaging |
Chemical Substances | NFI Transcription Factors |
Language | English |
Publishing date | 2024-02-13 |
Publishing country | England |
Document type | Case Reports ; Journal Article |
ZDB-ID | 2269805-X |
ISSN | 1752-1947 ; 1752-1947 |
ISSN (online) | 1752-1947 |
ISSN | 1752-1947 |
DOI | 10.1186/s13256-024-04361-1 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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