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

Pleiotropy01:33

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,...
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Cushing Syndrome II: Pathophysiology01:19

Cushing Syndrome II: Pathophysiology

Cortisol production is normally governed by the hypothalamic–pituitary–adrenal (HPA) axis, which maintains hormonal balance through tightly regulated feedback mechanisms. Disruption of this regulatory system is central to the development of Cushing syndrome, whether the excess cortisol originates from external medications or internal pathology. Persistent cortisol elevation alters metabolism, immune function, and endocrine signaling, producing the characteristic clinical features of the...

You might also read

Related Articles

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

Sort by
Same author

Migraine: Innovation in Treatment, Policy Support, and Patient Perspectives.

Indian journal of public health·2026
Same author

Reducing Nitrous Oxide Utilization as Part of a Greener Anesthesia Program: Outcomes from a Tertiary Care Center.

Annals of African medicine·2026
Same author

Comparison of Ultrasound-guided Continuous Erector Spine Plane Block and Epidural Block for Postoperative Analgesia in Laparoscopic Nephrectomy: A Prospective Interventional Study.

Annals of African medicine·2026
Same author

Comparison of POGO score in neutral and extended head positions during awake orotracheal intubation using a flexible bronchoscope in adults with difficult airways.

Journal of anaesthesiology, clinical pharmacology·2026
Same author

Comparison of Procalcitonin, C-reactive Protein, and Interleukin-6 in the Postoperative Course After Lung Decortication Surgery: A Prospective Observational Study.

Cureus·2025
Same author

Efficacy of Microvascular Couplers for Venous Micro-anastomosis in the Reconstruction of Oral Defects.

Journal of maxillofacial and oral surgery·2025
Same journal

A case of accidental ingestion and medical retrieval of dental implant prosthetic hex driver.

National journal of maxillofacial surgery·2026
Same journal

Public perception of oral and maxillofacial surgery among the general population: A cross-sectional study.

National journal of maxillofacial surgery·2026
Same journal

Effects of periodontal treatment during pregnancy, on prevention of preterm low birth weight: A case control study.

National journal of maxillofacial surgery·2026
Same journal

Unicystic ameloblastoma: Systematic review of clinico-pathologic features and treatment outcomes in infants, children and young adults.

National journal of maxillofacial surgery·2026
Same journal

A comparative study on airway morbidity with air, saline, and alkalinized lidocaine used for inflation of tracheal tube cuffs.

National journal of maxillofacial surgery·2026
Same journal

Healing of extraction socket with or without Gelatamp<sup>®</sup> after impacted mandibular third molar surgery: A prospective, comparative, randomized, split mouth study.

National journal of maxillofacial surgery·2026
See all related articles

Related Experiment Video

Updated: May 23, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Gorlin-Goltz syndrome.

Munish Kohli1, Monica Kohli, Naresh Sharma

  • 1Department of Oral and Maxillofacial Surgery, Saraswati Dental College and Hospital, Lucknow, Uttar Pradesh, India.

National Journal of Maxillofacial Surgery
|March 24, 2012
PubMed
Summary
This summary is machine-generated.

Gorlin-Goltz syndrome, a genetic disorder, presents with varied symptoms. This case highlights typical medical and dental issues in an 11-year-old girl, including skeletal deformities and jaw cysts.

Keywords:
Autosomal dominantmultiple organsodontogenic keratocystspina bifida

More Related Videos

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

Related Experiment Videos

Last Updated: May 23, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
07:38

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

Area of Science:

  • Genetics
  • Oral and Maxillofacial Surgery
  • Pediatric Medicine

Background:

  • Gorlin-Goltz syndrome is an inherited autosomal dominant disorder.
  • It exhibits complete penetrance and highly variable expressivity.
  • This genetic condition affects multiple body systems.

Observation:

  • A case study of an 11-year-old girl with Gorlin-Goltz syndrome is presented.
  • The patient displayed typical features of the syndrome.
  • Medical and dental manifestations were noted.

Findings:

  • The patient had multiple bony cage deformities, including spina bifida with left-sided scoliosis.
  • An infantile uterus was observed.
  • Multiple odontogenic keratocysts were present in the maxillofacial region.

Implications:

  • This case underscores the diverse clinical manifestations of Gorlin-Goltz syndrome.
  • Early recognition of medical and dental problems is crucial for management.
  • Comprehensive patient care requires a multidisciplinary approach.