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Related Concept Videos

Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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:
Hyperosmolar Hyperglycemic State01:21

Hyperosmolar Hyperglycemic State

Hyperosmolar Hyperglycemic State, or HHS, is a serious and life-threatening complication of type 2 diabetes mellitus. It is characterized by three main features: severe hyperglycemia, profound dehydration, and elevated serum osmolality, all occurring without significant ketoacidosis.HHS typically develops in older adults or individuals with limited access to fluids. This may result from illness, cognitive impairment, or medications such as diuretics or corticosteroids. These factors reduce...

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Related Experiment Video

Updated: May 17, 2026

Embryo Transfer Surgery via Laparotomy in Gilts
05:41

Embryo Transfer Surgery via Laparotomy in Gilts

Published on: October 18, 2024

Goldenhar-Gorlin's syndrome: A case report.

J K Sharma1, S K Pippal, S K Raghuvanshi

  • 1Department of ENT, Hamidia Hospital, GMC, Room No. 36, 462 001 Bhopal, M.P. India.

Indian Journal of Otolaryngology and Head and Neck Surgery : Official Publication of the Association of Otolaryngologists of India
|November 3, 2012
PubMed
Summary

Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a rare congenital disorder. This case study highlights a 12-year-old male with typical features, excluding ocular abnormalities, and discusses current treatment protocols.

Keywords:
DeformityOAVanti convulsants

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Last Updated: May 17, 2026

Embryo Transfer Surgery via Laparotomy in Gilts
05:41

Embryo Transfer Surgery via Laparotomy in Gilts

Published on: October 18, 2024

Area of Science:

  • Medical Genetics
  • Pediatrics
  • Congenital Disorders

Background:

  • Goldenhar syndrome, or oculo-auriculo-vertebral spectrum, is a rare congenital condition.
  • Initially described with ear and eye malformations, vertebral defects were added in 1963.

Purpose of the Study:

  • To report a case of Goldenhar syndrome in a 12-year-old male.
  • To describe the clinical presentation and management of this rare disorder.

Main Methods:

  • Case report of a 12-year-old male presenting with dysmorphic ears.
  • Clinical evaluation to identify classical signs of Goldenhar syndrome.
  • Review of current treatment protocols for the syndrome.

Main Results:

  • The patient presented with classical signs of Goldenhar syndrome, including dysmorphic ears.
  • Ocular abnormalities, typically associated with the syndrome, were absent in this case.
  • The case underscores the variability in clinical presentation.

Conclusions:

  • Goldenhar syndrome presents with a spectrum of anomalies, and ocular findings may be absent.
  • Early diagnosis and appropriate management are crucial for affected individuals.
  • This case contributes to the understanding of the oculo-auriculo-vertebral spectrum's clinical variability.