Related Experiment Video
Updated: Jul 19, 2026
07:50
A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Occulocerebrocutaneous syndrome: a case report
Lindsey L Cohen1, Amber Fancher, Jill E MacLaren
1Dept. of Pediatric Dentistry, Great Ormond Street Hospital, London, UK.
The Journal of Clinical Pediatric Dentistry
|November 10, 2006
Summary
Occulocerebrocutaneous syndrome, a rare disorder, typically presents with orbital cysts and skin tags. This case report details the novel association of supernumerary teeth with this syndrome in a child.
Area of Science:
- Dentistry
- Medical Genetics
- Dermatology
Background:
- Occulocerebrocutaneous syndrome is a rare genetic disorder.
- It is characterized by orbital cysts and skin tags.
Observation:
- A case study of a child with Occulocerebrocutaneous syndrome was conducted.
- The child presented with a primary supernumerary tooth and a permanent supernumerary successor.
Findings:
- This is the first documented instance of supernumerary teeth associated with Occulocerebrocutaneous syndrome.
- Dental anomalies, specifically supernumerary teeth, can occur in this rare condition.
Implications:
- This finding expands the known clinical spectrum of Occulocerebrocutaneous syndrome.
- Highlights the importance of thorough dental and physical examinations in children diagnosed with rare syndromes.
Related Concept Videos
01:24Prosopagnosia
Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
01:26Cushing Syndrome I: Introduction
Cushing syndrome refers to the collection of clinical manifestations that arise when tissues are exposed to excessive amounts of cortisol or cortisol-like medications over an extended period. Cortisol, a glucocorticoid produced by the adrenal cortex, regulates metabolism, immune responses, and the body’s adaptation to stress. When its concentration remains chronically elevated, these physiological pathways become dysregulated, resulting in the characteristic features of the syndrome.Exogenous...
01:19Cushing 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...
01:25Glaucoma: Overview
Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...