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 Concept Videos

Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
The Spindle Assembly Checkpoint02:19

The Spindle Assembly Checkpoint

The spindle assembly checkpoint is a molecular surveillance mechanism ensuring the fidelity of chromosome segregation during anaphase. The checkpoint monitors the completion of all the prerequisite steps before chromosome segregation to determine whether the segregation process should proceed or be delayed.
Many proteins function together to control the spindle assembly checkpoint. Mutations affecting these proteins may allow cells to proceed into anaphase prematurely, resulting in the...
Desmosomes01:05

Desmosomes

The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
Bone Formation by Endochondral Ossification01:24

Bone Formation by Endochondral Ossification

Bone formation, or ossification, begins around the sixth to seventh week of embryonic development. Most bones develop from a cartilaginous template through the process of endochondral ossification. Cartilage formation begins when clusters of mesenchymal cells differentiate into chondrocytes. These chondrocytes proliferate rapidly and secrete an extracellular matrix that becomes encased in a membrane called the perichondrium. The resulting cartilage model provides a template that resembles the...
Cellular Adaptation IV: Dysplasia and Metaplasia01:24

Cellular Adaptation IV: Dysplasia and Metaplasia

DysplasiaDysplasia refers to abnormal changes in the size, shape, and organization of mature cells, characterized by pleomorphism, nuclear abnormalities, and increased mitotic activity. It commonly affects epithelial tissues, including the cervix, gastrointestinal tract, respiratory mucosa, and endometrium. Although it may occur alongside hyperplasia, dysplasia is not a true adaptive response but a preneoplastic change with potential to progress to cancer.When confined above the basement...

You might also read

Related Articles

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

Sort by
Same author

Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome.

Molecular genetics and metabolism reports·2020
Same author

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome.

Molecular genetics and metabolism reports·2020
Same author

SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.

Clinical genetics·2018
Same author

Isolation, characterization and activity of phytotoxic compounds from quackgrass [Agropyron repens (L.)Beauv].

Journal of chemical ecology·2013
Same author

Ferulate esters of higher fatty alcohols and allelopathy inKalanchöe daigremontiana.

Journal of chemical ecology·2013
Same author

Cardiac Ultrasound Findings in Infants with Severe (Hurler Phenotype) Untreated Mucopolysaccharidosis (MPS) Type I.

JIMD reports·2013

Related Experiment Video

Updated: Jul 10, 2026

Diagnosis of Neoplasia in Barrett’s Esophagus using Vital-dye Enhanced Fluorescence Imaging
06:55

Diagnosis of Neoplasia in Barrett’s Esophagus using Vital-dye Enhanced Fluorescence Imaging

Published on: May 11, 2014

de la Chapelle dysplasia.

C B Whitley, B A Burke, G Granroth

    American Journal of Medical Genetics
    |September 1, 1986
    PubMed
    Summary

    De la Chapelle dysplasia is a rare, lethal skeletal disorder with unique features. Recessive inheritance is suggested by new cases, highlighting distinct respiratory and skeletal malformations.

    Area of Science:

    • Medical Genetics
    • Skeletal Dysplasias
    • Neonatal Pathology

    Background:

    • De la Chapelle dysplasia is a rare skeletal dysplasia described by de la Chapelle and colleagues.
    • Previous cases were limited, necessitating further investigation into inheritance patterns and clinical presentation.

    Observation:

    • Four cases are now described, including new instances in the original Finnish family and a sporadic Belgian case.
    • A normal sibling in the original family suggests recessive inheritance.
    • Common physical features include cleft palate, small thorax, micromelia, and equinovarus deformity.

    Findings:

    • Severe skeletal abnormalities include reduced ulnae and fibulae, short, bowed long bones.
    • Neonatal death is consistently linked to respiratory tract malformations: laryngeal stenosis, tracheobronchomalacia, and pulmonary hypoplasia.

    More Related Videos

    Visualization of Chondrocyte Intercalation and Directional Proliferation via Zebrabow Clonal Cell Analysis in the Embryonic Meckel’s Cartilage
    06:40

    Visualization of Chondrocyte Intercalation and Directional Proliferation via Zebrabow Clonal Cell Analysis in the Embryonic Meckel’s Cartilage

    Published on: October 21, 2015

    Induction and Diagnosis of Tumors in Drosophila Imaginal Disc Epithelia
    08:14

    Induction and Diagnosis of Tumors in Drosophila Imaginal Disc Epithelia

    Published on: July 25, 2017

    Related Experiment Videos

    Last Updated: Jul 10, 2026

    Diagnosis of Neoplasia in Barrett’s Esophagus using Vital-dye Enhanced Fluorescence Imaging
    06:55

    Diagnosis of Neoplasia in Barrett’s Esophagus using Vital-dye Enhanced Fluorescence Imaging

    Published on: May 11, 2014

    Visualization of Chondrocyte Intercalation and Directional Proliferation via Zebrabow Clonal Cell Analysis in the Embryonic Meckel’s Cartilage
    06:40

    Visualization of Chondrocyte Intercalation and Directional Proliferation via Zebrabow Clonal Cell Analysis in the Embryonic Meckel’s Cartilage

    Published on: October 21, 2015

    Induction and Diagnosis of Tumors in Drosophila Imaginal Disc Epithelia
    08:14

    Induction and Diagnosis of Tumors in Drosophila Imaginal Disc Epithelia

    Published on: July 25, 2017

  • Distinctive histopathology includes lacunar halos, also seen in achondrogenesis.

    • Implications:

    • The unique clinical and radiographic features distinguish de la Chapelle dysplasia from other neonatal lethal osteochondrodysplasias.
    • Identification of lacunar halos provides a potential diagnostic marker.
    • Understanding the recessive inheritance pattern aids in genetic counseling and family planning.