Arthrogryposis multiplex congenita in utero: radiologic and pathologic findings.

Document Type

Article

Publication Date

2-2019

Identifier

DOI: 10.1080/14767058.2017.1381683

Abstract

Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. It affects approximately 1 in 3000 individuals, mostly reported in individuals of Asian, African and European descent with equal incidence in males and females. Arthrogryposis is associated with over 400 medical conditions and 350 known genes with considerable variability in phenotypic expression. The primary underlying mechanism is decreased fetal movement during development. Prenatal imaging is crucial in early diagnosis by identifying fetal movement limitations and the presence of club foot or joint contractures. Postnatal autopsy confirms the diagnosis and extent of associated congenital anomalies and provides a valuable source of DNA material. Molecular methods are particularly useful in delineating novel gene mutations, locus heterogeneity and phenotype genotype correlation. Prenatal evaluation with early diagnosis via image scanning and further genetic surveillance give the opportunity for family counseling concerning future pregnancy management and expected neonatal morbidity and mortality.

Journal Title

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Volume

32

Issue

3

First Page

502

Last Page

511

MeSH Keywords

Arthrogryposis; Female; Genetic Association Studies; Humans; Phenotype; Pregnancy; Ultrasonography, Prenatal

Keywords

Arthrogryposis; autopsy; contractures; prenatal; ultrasound

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