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

Skeletal muscular changes in Pena-Shokeir sequence.

P Reiser1, J Briner, A Schinzel

  • 1Institute of Pathology, University of Zurich, Switzerland.

Journal of Perinatal Medicine
|January 1, 1990
PubMed
Summary

Pena-Shokeir sequence in fetuses and newborns showed minor muscle changes, not specific myopathies. Fetal hypokinesia from skeletal muscle issues may cause pulmonary hypoplasia and limb deformities.

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

Spectral narrowing of x-ray pulses for precision spectroscopy with nuclear resonances.

Science (New York, N.Y.)·2017
Same author

Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

Clinical genetics·2016
Same author

Actin filament-associated protein 1 is required for cSrc activity and secretory activation in the lactating mammary gland.

Oncogene·2014
Same author

Del (18p) syndrome with increased nuchal translucency revealed in prenatal diagnosis.

Genetic counseling (Geneva, Switzerland)·2011
Same author

Mutational analysis of the tumor-suppressor gene wt1 - detection of a novel homozygous point mutation in sporadic unilateral wilms-tumor.

International journal of oncology·2011
Same author

Mosaic supernumerary ring chromosome 1 in a three-generational family: 10-year follow-up report.

European journal of medical genetics·2010

Area of Science:

  • Medical science
  • Pathology
  • Developmental biology

Background:

  • Pena-Shokeir sequence is a congenital disorder characterized by joint contractures, facial anomalies, and pulmonary hypoplasia.
  • The underlying cause of Pena-Shokeir sequence, particularly the role of skeletal muscle, remains unclear.

Observation:

  • Histologic examination of skeletal muscles from 8 fetuses and newborns with Pena-Shokeir sequence was performed.
  • Minor, nonspecific changes were noted, insufficient to diagnose specific myopathies.
  • Increased muscle fiber diameters were observed in 2 of 5 examined patients.

Findings:

  • Skeletal muscle lesions in Pena-Shokeir sequence are subtle and not indicative of known myopathies.
  • No significant internal organ malformations were detected via autopsy.
  • Increased muscle fiber diameter suggests potential muscular involvement.

Implications:

  • Fetal hypokinesia, stemming from skeletal muscle abnormalities, is proposed as the cause of pulmonary hypoplasia.
  • This fetal hypokinesia may also contribute to the characteristic facial and extremity deformities seen in Pena-Shokeir sequence.
  • Further research into fetal movement disorders and skeletal muscle development is warranted.

Related Experiment Videos