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

Genetic study of scaphocephaly

E Lajeunie1, M Le Merrer, C Bonaïti-Pellie

  • 1U393 INSERM, Hôpital Necker Enfants-Malades, Paris, France.

American Journal of Medical Genetics
|March 29, 1996
PubMed
Summary

Sagittal synostosis, a common skull deformity, affects 1 in 5,000 children. This study suggests it

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

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.

Neurology·2012
Same author

Paclitaxel-hyaluronic acid for intravesical therapy of bacillus Calmette-Guérin refractory carcinoma in situ of the bladder: results of a phase I study.

The Journal of urology·2010
Same author

[Cancer genetics: estimation of the needs of the population in France for the next ten years].

Bulletin du cancer·2009
Same author

Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families.

European journal of neurology·2009
Same author

PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history.

Genetic epidemiology·2008
Same author

[Evaluation of the result of 50 face-lifts with monobloc suspension].

Annales de chirurgie plastique et esthetique·2008

Area of Science:

  • Medical Genetics
  • Pediatric Surgery
  • Developmental Biology

Background:

  • Craniosynostosis involves premature fusion of skull sutures.
  • Non-syndromal isolated sagittal synostosis is the most common form.
  • Understanding its etiology is crucial for diagnosis and treatment.

Purpose of the Study:

  • To investigate the prevalence and inheritance patterns of non-syndromal isolated sagittal synostosis.
  • To explore potential etiological factors, including genetic and mechanical influences.
  • To analyze familial aggregation and transmission modes.

Main Methods:

  • Analysis of 561 probands with non-syndromal isolated sagittal synostosis from a cohort of 1,408 craniosynostosis patients.
  • Family history and pedigree analysis for 366 families.
  • Segregation analysis of 253 families to determine inheritance patterns.

Main Results:

  • Estimated prevalence of sagittal synostosis at 1 in 5,000 children.
  • Male predominance (3.5:1 ratio) and no significant maternal or paternal age effect.
  • Familial aggregation observed in 6% of cases, suggesting dominant inheritance with 38% penetrance.
  • Sporadic cases accounted for 72% of the total.
  • Twinning frequency was 4.8%, with one case of concordance in monozygotic twins.

Conclusions:

  • Sagittal synostosis likely follows an autosomal dominant inheritance pattern with reduced penetrance.
  • A significant proportion of cases are sporadic, prompting consideration of mechanical pathogenesis.
  • Further research is needed to elucidate the complex etiology of this common condition.

Related Experiment Videos