Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Huntington Disease l: Introduction

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

Multiple Sclerosis l: Introduction

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...

Esophageal Achalasia

Esophageal Achalasia

Esophageal achalasia is a chronic neurogenic disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) and absent or ineffective peristalsis in the distal esophagus. This leads to a functional obstruction without a physical blockage, despite significant disruption of esophageal motility.EtiologyAchalasia is caused by degeneration of the myenteric (Auerbach's) plexus, specifically the loss of inhibitory ganglion cells that produce vasoactive intestinal peptide (VIP)...

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

You might also read

Related Articles

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

Sort by

Same author

Microbiological evaluation of different agitation methods of irrigation during endodontic procedure - A randomized clinical trial.

Journal of conservative dentistry and endodontics·2026

Same author

A Prospective, Blinded Randomized, Active-controlled Clinical Trial to Evaluate the Success of Double Antibiotic Paste in Pulpally Infected Primary Molars.

International journal of clinical pediatric dentistry·2025

Same author

Comparison of clinical performance of obturating materials in pulpectomies: A randomized clinical trial.

Journal of the Indian Society of Pedodontics and Preventive Dentistry·2024

Same author

A Correlation of Tumour Budding and Tumour-Stroma Ratio with Clinicopathological Factors in Oral Squamous Cell Carcinoma.

Sultan Qaboos University medical journal·2024

Same author

Endodontic Management of Complicated Vertical Crown-Root Fracture in Deciduous Molars: Report of Two Cases.

Frontiers in dentistry·2022

Same author

Validation of a noninvasive aMMP-8 point-of-care diagnostic methodology in COVID-19 patients with periodontal disease.

Clinical and experimental dental research·2022

Search research articles

Related Experiment Video

Updated: May 27, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Brachman de Lange syndrome.

Leena Verma¹, Sidhi Passi, Krishan Gauba

¹Department of Pedodontics, Dr. H.S.J. Institute of Dental Sciences and Research, Chandigarh, India .

Contemporary Clinical Dentistry

|November 25, 2011

Summary

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder causing developmental anomalies. This case highlights unique dental issues, including missing teeth, in a CdLS patient and her father.

Area of Science:

Genetics
Pediatrics
Dentistry

Background:

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder affecting physical and intellectual development.
CdLS is characterized by distinctive facial features, growth retardation, skeletal abnormalities, hypertrichosis, and developmental delay.
The syndrome occurs in approximately 1 in 10,000 to 60,000 neonates.

Observation:

A 13-year-old patient with CdLS presented with a unique combination of micrognathia, delayed tooth eruption, extensive caries, missing teeth, and periodontal disease.
These specific dental anomalies in conjunction with CdLS have not been previously reported in medical literature.
The patient's father exhibited the same pattern of missing teeth, suggesting a potential genetic link within the family.

Findings:

Keywords:

Cornelia de Lange dental caries partial anodontia

More Related Videos

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Experiment Videos

Last Updated: May 27, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

The case report details a novel presentation of dental anomalies in a patient diagnosed with Cornelia de Lange syndrome.
The co-occurrence of micrognathia, delayed eruption, carious teeth, missing teeth, and periodontal issues represents a previously undocumented manifestation of CdLS.
The familial occurrence of missing teeth in the patient and her father suggests a possible inherited component influencing dental development in CdLS.

Implications:

This case expands the known clinical spectrum of Cornelia de Lange syndrome, particularly concerning oral health.
Recognizing these dental manifestations is crucial for comprehensive patient management and early intervention in individuals with CdLS.
Further research into the genetic basis of dental anomalies in CdLS may reveal new diagnostic markers or therapeutic targets.