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

The KBG syndrome.

S F Smithson1, E M Thompson, A G McKinnon

  • 1Department of Clinical Genetics, Institute of Child Health, Bristol Children's Hospital, UK.

Clinical Dysmorphology
|May 29, 2000
PubMed
Summary
This summary is machine-generated.

Two boys with short stature, broad face, macrodontia, and developmental delay may have KBG syndrome. Further genetic analysis is needed to determine the inheritance pattern for accurate genetic counseling.

Related Experiment Videos

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

Prognostic Importance of Pathological Fractures in Osteosarcomas.

Irish medical journal·2020
Same author

Cardiac Leiomyosarcoma in a Cat Presenting for Bilateral Renal Neoplasia.

Journal of comparative pathology·2019
Same author

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

European journal of human genetics : EJHG·2018
Same author

A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay.

Seizure·2018
Same author

Growth plate extracellular matrix-derived scaffolds for large bone defect healing.

European cells & materials·2017
Same author

Use of lumbar laminoplasty vs. laminotomy for transection of the filum terminale does not affect early complication rates or postoperative course.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery·2015
Same journal

A male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia.

Clinical dysmorphology·2026
Same journal

Integrating Face2Gene analysis in the diagnosis of Van den Ende-Gupta syndrome caused by a novel SCARF2 mutation with expanded skeletal and cardiac features.

Clinical dysmorphology·2026
Same journal

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

Clinical dysmorphology·2026
Same journal

A case of serpentine fibula-polycystic kidney syndrome presenting with foetal limb shortening: a disorder of foetal osteogenesis and part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Clinical dysmorphology·2026
Same journal

Lateral nasal proboscis associated with nasal glioma: a complex unilateral craniofacial malformation.

Clinical dysmorphology·2026
Same journal

Primrose syndrome with a novel ZBTB20 variant with congenital glaucoma and hydrocephalus.

Clinical dysmorphology·2026
See all related articles

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • KBG syndrome is a rare genetic disorder characterized by a distinctive phenotype.
  • Key features include short stature, facial abnormalities, and developmental delays.