Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Pena-Shokeir syndrome. Malformed sequence. 2 case reports].

M P Cordier, M H Guillaud, C Coicaud

    Journal De Genetique Humaine
    |August 1, 1986
    PubMed
    Summary

    Pena-Shokeir syndrome is a rare genetic disorder. This report highlights its role in causing hydramnios and arthrogryposis multiplex congenita, especially autosomal recessive forms.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Structural differences of commercial and recombinant lipase B from Candida antarctica: An important implication on enzymes thermostability.

    International journal of biological macromolecules·2019
    Same author

    Fetal phenotypes in otopalatodigital spectrum disorders.

    Clinical genetics·2015
    Same author

    Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history.

    Clinical genetics·2014
    Same author

    Benefits of smart pumps for automated changeovers of vasoactive drug infusion pumps: a quasi-experimental study.

    British journal of anaesthesia·2013
    Same author

    Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

    Clinical genetics·2013
    Same author

    Residents and ICU nurses get reliable static and dynamic haemodynamic assessments with aortic oesophageal Doppler.

    Acta anaesthesiologica Scandinavica·2011

    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Obstetrics

    Background:

    • Pena-Shokeir syndrome is a rare congenital disorder characterized by joint contractures and facial anomalies.
    • Hydramnios (excess amniotic fluid) and arthrogryposis multiplex congenita (AMC) are complex conditions with diverse etiologies.
    • Understanding the genetic basis of congenital disorders is crucial for diagnosis and management.

    Observation:

    • Two cases of Pena-Shokeir syndrome were identified.
    • These cases presented with features consistent with the syndrome, including joint contractures and other congenital anomalies.
    • The clinical presentation highlighted the association with hydramnios.

    Findings:

    • Pena-Shokeir syndrome is identified as a significant, though infrequent, cause of hydramnios.

    Related Experiment Videos

  • The syndrome's contribution to the spectrum of arthrogryposis multiplex congenita (AMC) is emphasized.
  • Autosomal recessive inheritance patterns are particularly relevant for this condition within the AMC differential diagnosis.

    • Implications:

    • This study expands the understanding of Pena-Shokeir syndrome's role in obstetric complications.
    • Accurate diagnosis of Pena-Shokeir syndrome can guide genetic counseling and family planning.
    • Further research into the genetic underpinnings of AMC and hydramnios is warranted.