Fetal akinesia deformation sequence

Definition:

Fetal akinesia deformation sequence (FADS) is a heterogeneous disorder characterized by impaired fetal movement and resulting developmental defects. Fetal movement is essential for normal fetal development and growth. Intrauterine movement restriction causes growth retardation, congenital limb contractures, pterygia, pulmonary hypoplasia, and hydramnios.

References:

[1]. Anne Michalk, et al. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet. 2008 Feb;82(2):464-76. [Content Brief]

[2]. Edith Bonnin, et al. Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. PLoS Genet. 2018 Dec 13;14(12):e1007845. [Content Brief]

[3]. J Vogt, et al. Germline mutation in DOK7 associated with fetal akinesia deformation sequence. J Med Genet. 2009 May;46(5):338-40. [Content Brief]

[4]. Julie Vogt, et al. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am J Hum Genet. 2008 Jan;82(1):222-7. [Content Brief]

[5]. M Brigita Tan-Sindhunata, et al. Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. Eur J Hum Genet. 2015 Sep;23(9):1151-7. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.