Related Experiment Video

Updated: Aug 25, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

The Goldenhar syndrome: a natural history

M H Shokeir

    Birth Defects Original Article Series
    |January 1, 1977
    PubMed

    Insights

    Goldenhar syndrome (1st branchial arch syndrome) presents varied challenges across age groups, from infancy ocular and palatal issues to adult spinal concerns. Early intervention and management are key for addressing hearing deficits and cosmetic concerns throughout life.

    Area of Science:

    • Genetics and Developmental Biology
    • Pediatric Medicine
    • Otolaryngology

    Background:

    • The 1st branchial arch syndrome, also known as Goldenhar syndrome, is a complex congenital disorder.
    • It affects multiple craniofacial structures and can have systemic implications.

    Purpose of the Study:

    • To describe the diverse clinical manifestations and age-dependent challenges in a cohort of 24 patients with Goldenhar syndrome.
    • To highlight previously unreported features and long-term outcomes.

    Main Methods:

    • Ascertainment of 24 patients with Goldenhar syndrome.
    • Longitudinal observation of clinical features across different age groups (infancy to adulthood).

    Main Results:

    • Infancy: Ocular, auricular, and palatal issues are prominent; feeding difficulties (deglutition incoordination, achalasia, hiatus hernia, mobile cecum) are significant.
    • Childhood/Adolescence: Hearing deficits and cosmetic concerns become more critical.
    • Adulthood: Spinal problems with early degenerative changes requiring surgical intervention emerge.
    • Fertility and longevity appear unaffected in this cohort.

    Conclusions:

    • Goldenhar syndrome exhibits a wide spectrum of age-related clinical challenges.
    • Early identification and management of specific issues are crucial for patient outcomes.
    • Unreported gastrointestinal and spinal complications require further attention.

    More Related Videos

    Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

    Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

    Published on: August 8, 2022

    Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection02:22

    Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection

    Published on: April 12, 2024

    Related Concept Videos

    Genetic Lingo01:11

    Genetic Lingo

    Overview
    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,...
    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.
    Incomplete Dominance01:43

    Incomplete Dominance

    Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
    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...
    Huntington Disease l: Introduction01:21

    Huntington Disease l: Introduction

    Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...