Literature DB >> 2222919

A retrospective study of pregnancy complications among 828 cases of arthrogryposis.

M J Fahy1, J G Hall.   

Abstract

828 cases with multiple congenital contractures (arthrogryposis) were categorized and histories were reviewed to identify pregnancy complications. 53.0% of cases had a specified diagnosis or known cause and no diagnosis was found for 47.0% of which 27.2% were though to probably have a genetic basis and 19.8% were of unknown etiology. Our data provides no evidence to support the suggestion that arthrogryposis is frequently a result of environmental or structural causes including uterine structural anomaly, intra-uterine infection, etc. Normal frequencies of bleeding, hormone treatment during gestation, amniotic fluid leakage, uterine anomaly, maternal illness, and maternal and paternal age were noted. Apparent, increased frequencies of twinning, severe nausea, polyhydramnios and oligohydramnios were observed. In particular, the frequency of polyhydramnios was dramatically increased among lethal cases (vs survivors) and thus, polyhydramnios appears to be a poor prognostic sign when associated with decreased fetal movement. Large case control studies with complete pregnancy histories are needed to confirm these results and to definitively identify pregnancy complications that are useful "flags" to indicate decreased fetal movement in utero and thus, aid in the identification of primary causes of arthrogryposis.

Entities:  

Mesh:

Year:  1990        PMID: 2222919

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  13 in total

Review 1.  Arthrogryposis: a review and update.

Authors:  Michael Bamshad; Ann E Van Heest; David Pleasure
Journal:  J Bone Joint Surg Am       Date:  2009-07       Impact factor: 5.284

Review 2.  Arthrogryposis multiplex congenita: classification, diagnosis, perioperative care, and anesthesia.

Authors:  Lulu Ma; Xuerong Yu
Journal:  Front Med       Date:  2017-03-02       Impact factor: 4.592

3.  Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

Authors:  Shifeng Xue; Jérôme Maluenda; Florent Marguet; Mohammad Shboul; Loïc Quevarec; Carine Bonnard; Alvin Yu Jin Ng; Sumanty Tohari; Thong Teck Tan; Mung Kei Kong; Kristin G Monaghan; Megan T Cho; Carly E Siskind; Jacinda B Sampson; Carolina Tesi Rocha; Fawaz Alkazaleh; Marie Gonzales; Luc Rigonnot; Sandra Whalen; Marta Gut; Ivo Gut; Martine Bucourt; Byrappa Venkatesh; Annie Laquerrière; Bruno Reversade; Judith Melki
Journal:  Am J Hum Genet       Date:  2017-03-16       Impact factor: 11.025

Review 4.  [Congenital multiple arthrogryposis].

Authors:  Klaus Parsch; Szymon Pietrzak
Journal:  Orthopade       Date:  2007-03       Impact factor: 1.087

5.  Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.

Authors:  Jérôme Maluenda; Constance Manso; Loic Quevarec; Alexandre Vivanti; Florent Marguet; Marie Gonzales; Fabien Guimiot; Florence Petit; Annick Toutain; Sandra Whalen; Romulus Grigorescu; Anne Dieux Coeslier; Marta Gut; Ivo Gut; Annie Laquerrière; Jérôme Devaux; Judith Melki
Journal:  Am J Hum Genet       Date:  2016-09-08       Impact factor: 11.025

6.  Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

Authors:  Dan Mejlachowicz; Flora Nolent; Jérome Maluenda; Hanitra Ranjatoelina-Randrianaivo; Fabienne Giuliano; Ivo Gut; Damien Sternberg; Annie Laquerrière; Judith Melki
Journal:  Am J Hum Genet       Date:  2015-09-10       Impact factor: 11.025

7.  Arthrogryposis: an update on clinical aspects, etiology, and treatment strategies.

Authors:  Bartłomiej Kowalczyk; Jarosław Feluś
Journal:  Arch Med Sci       Date:  2016-02-02       Impact factor: 3.318

8.  Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures.

Authors:  Hamza Sucuoglu; Nurettin Irem Ornek; Cagkan Caglar
Journal:  Case Rep Med       Date:  2015-10-28

9.  Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.

Authors:  Marzia Pollazzon; Stefano Giuseppe Caraffi; Silvia Faccioli; Simonetta Rosato; Heidi Fodstad; Belinda Campos-Xavier; Emanuele Soncini; Giuseppina Comitini; Daniele Frattini; Teresa Grimaldi; Maria Marinelli; Davide Martorana; Antonio Percesepe; Silvia Sassi; Carlo Fusco; Giancarlo Gargano; Andrea Superti-Furga; Livia Garavelli
Journal:  Genes (Basel)       Date:  2021-12-23       Impact factor: 4.096

10.  De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.

Authors:  Dana Jaber; Cyril Gitiaux; Sophie Blesson; Florent Marguet; David Buard; Maritzaida Varela Salgado; Anna Kaminska; Julien Saada; Catherine Fallet-Bianco; Jelena Martinovic; Annie Laquerriere; Judith Melki
Journal:  J Med Genet       Date:  2020-09-14       Impact factor: 6.318

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.