Related Experiment Video

Updated: May 12, 2026

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis ALS
12:43

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis ALS

Published on: February 21, 2011

34.8K

Goldenhar Syndrome: Quality-of-Life Analysis of 43 Consecutive Patients

Josephine Schneider1, Philipp Jehn, Nils-Claudius Gellrich

  • 1Hannover Medical School, Hannover, Germany.

The Journal of Craniofacial Surgery
|February 22, 2024
PubMed

Insights

Goldenhar syndrome, a rare congenital condition, significantly impacts quality of life (QoL). Females with this syndrome experience worse QoL than males, highlighting a key finding for this rare disease.

Area of Science:

  • Medical Genetics
  • Congenital Disorders
  • Quality of Life Research

Background:

  • Goldenhar syndrome is a rare congenital disorder involving craniofacial, spinal, and organ malformations.
  • The pathogenesis and full impact of Goldenhar syndrome on patients' quality of life (QoL) remain incompletely understood.

Purpose of the Study:

  • To analyze the impact of Goldenhar syndrome on QoL in a patient cohort.
  • To identify factors correlating with QoL outcomes in Goldenhar syndrome patients.

Main Methods:

  • Retrospective analysis of 43 Goldenhar syndrome patients treated between 1997-2020.
  • Review of medical records for demographics, Pruzansky classification, surgical history, and associated conditions.
  • QoL assessment using the Oral Health Impact Profile (OHIP)-14 questionnaire; statistical evaluation via chi-squared and Pearson correlation tests.

Main Results:

  • Female sex showed a positive correlation with poorer OHIP outcomes, indicating significantly worse QoL compared to males.
  • No significant correlation was found between Pruzansky classification and QoL.
  • No significant correlation was observed between surgical history and QoL outcomes.

Conclusions:

  • Goldenhar syndrome presents with variable severity, and sex is a significant factor influencing QoL.
  • Females with Goldenhar syndrome report a diminished QoL compared to males.
  • Further prospective studies are needed to comprehensively understand the QoL impact of Goldenhar syndrome.

More Related Videos

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering09:43

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering

Published on: November 22, 2019

6.3K
Oral Health Assessment by Lay Personnel for Older Adults08:47

Oral Health Assessment by Lay Personnel for Older Adults

Published on: February 2, 2020

12.7K

Related Concept Videos

Taste Buds and Receptors01:20

Taste Buds and Receptors

Gustation, or the sense of taste, is intrinsically linked to the anatomical structures located on the tongue. This organ's surface, along with the entirety of the oral cavity, is adorned with stratified squamous epithelium. Evident on the tongue are elevated structures known as papillae (singular = papilla), which house the mechanisms for the transduction of gustatory stimuli. Four distinct types of papillae exist, each identified by their unique morphological attributes: the circumvallate,...
Assessment of the Gastrointestinal System II: Health Perception Pattern01:29

Assessment of the Gastrointestinal System II: Health Perception Pattern

Assessing the gastrointestinal (GI) system is a complex process that begins with collecting subjective data. This data, collected through patient interviews, provides crucial insights into the patient's health history, perception patterns, and lifestyle habits, all contributing significantly to GI health.
Health Perception Patterns
Health perception patterns offer valuable insights into a patient's lifestyle habits and how they may impact their GI health. These patterns include:
Bioavailability Study Design: Healthy Subjects Versus Patients01:15

Bioavailability Study Design: Healthy Subjects Versus Patients

Bioavailability studies are essential for evaluating a drug's therapeutic efficacy and understanding its absorption patterns under various physiological conditions. Conducting such studies on target patient populations provides more relevant data by simulating real-world disease states. However, practical challenges often necessitate the use of young, healthy adult volunteers as study subjects.Patients may exhibit altered drug absorption patterns due to the effects of the disease itself,...