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Fetal Akinesia Deformation Sequence

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Atlas of Genetic Diagnosis and Counseling
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Abstract

Fetal akinesia deformation sequence (FADS) refers to the condition of decreased intrauterine fetal movement and its consequent manifestations of multiple joint contractures, pulmonary hypoplasia, and abnormal face present at birth. It is also known as Pena-Shokeir phenotype (Hall 2009). The incidence is estimated to be 1 in 12,000, reflecting causal heterogeneity.

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Chen, H. (2017). Fetal Akinesia Deformation Sequence. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_90

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_90

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