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

Osteocraniostenosis

A Verloes1, F Narcy, B Grattagliano

  • 1Centre for Human Genetics, CHU Sart Tilman, Liège, Belgium.

Journal of Medical Genetics
|October 1, 1994
PubMed
Summary
This summary is machine-generated.

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

Variation of the maximum velocity along the umbilical vein supports the Reynolds pulsometer model.

Journal of gynecology obstetrics and human reproduction·2019
Same author

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

The British journal of dermatology·2018
Same author

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

The British journal of dermatology·2018
Same author

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.

Clinical genetics·2018
Same author

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Neurogenetics·2018
Same author

EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.

Clinical genetics·2018
Same journal

Longest surviving patient with a homozygous splice-altering <i>EGFR</i> pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy.

Journal of medical genetics·2026
Same journal

Functional characterisation and pathological significance of variants of <i>MEF2C</i> promoter in tetralogy of Fallot.

Journal of medical genetics·2026
Same journal

Identification of biallelic loss-of-function <i>PREP</i> variants in three individuals with syndromic intellectual disability.

Journal of medical genetics·2026
Same journal

Inherited retinal disease genes with dual inheritance patterns: insights from the IRD-PT registry.

Journal of medical genetics·2026
Same journal

Interpreting <i>TP53</i> variants: somatic mosaicism and <i>ERCC6L2</i>-driven clonal evolution.

Journal of medical genetics·2026
Same journal

Review of estimates of birth incidence and population prevalence over time and between countries of the rare neurodevelopmental condition Prader-Willi syndrome.

Journal of medical genetics·2026
See all related articles

This study identifies a rare multiple congenital anomalies (MCA) syndrome in fetuses, characterized by skeletal, facial, and organ abnormalities. The proposed name, osteocraniostenosis, highlights key radiological and clinical features of this condition.

Area of Science:

  • Medical Genetics
  • Skeletal Dysplasias
  • Fetal Pathology

Background:

  • Multiple congenital anomalies (MCA) syndromes represent a significant challenge in clinical genetics and diagnostics.
  • Understanding the spectrum of skeletal dysplasias is crucial for accurate diagnosis and management.

Observation:

  • Three unrelated fetuses presented with a distinct MCA syndrome.
  • Key features included thin, fishbone-like long bone diaphyses, flared metaphyses, micromelic dwarfism, brachydactyly, facial dysmorphism, ocular malformations (microphthalmia, aniridia), cloverleaf skull, and splenic hypoplasia.

Findings:

  • Histopathology revealed metaphyseal cartilage abnormalities, abnormal diaphyseal ossification, and excessive metaphyseal modeling.
  • Epiphyseal cartilage dysplasia was noted in one case.

Related Experiment Videos

  • Review of three prior cases supports the recognition of a distinct syndrome.

    • Implications:

    • The proposed name 'osteocraniostenosis' encapsulates the primary radiological and clinical features.
    • This syndrome expands the known spectrum of skeletal dysplasias and congenital anomalies.
    • Recognition of osteocraniostenosis aids in diagnosis and potentially future research into its etiology and pathogenesis.