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Article

<i>ECEL1</i> mutation causes fetal arthrogryposis multiplex congenita

23 Feb 2015

Abstract excerpt

Arthrogryposis multiplex congenita (AMC) is a descriptor for the clinical finding of congenital fixation of multiple joints. We present a consanguineous healthy couple with two pregnancies described with AMC due to characteristic findings on ultrasonography of fixated knee extension and reduced fetal movement at the gestational age of 13 weeks + 2 days and 12 weeks + 4 days. Both pregnancies were terminated and...

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PMID: 25708584
DOI: 10.1002/ajmg.a.37018

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Related research

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<i>ECEL1</i> mutation causes fetal arthrogryposis multiplex congenitaPMID 25708584Read ↗

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Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D.Semantic proximity Read ↗

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