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There are many research methods available to psychologists in their efforts to understand, describe, and explain behavior and the cognitive and biological processes that underlie it.

Trachea

Trachea

The trachea, commonly known as the windpipe, is a vital part of the human respiratory system. It serves as a passageway for air to travel between the larynx and the bronchi, allowing oxygen to reach the lungs. Let's explore its anatomical features, dimensions, layers of the tracheal wall, associated muscles, and the functions of its parts.
Anatomical Features:
Location: About half of the trachea is situated in the neck, anterior to the esophagus, and extends from the larynx (at the level of the...

Cushing Syndrome I: Introduction

Cushing 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...

Cushing Syndrome II: Pathophysiology

Cushing 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...

Huntington Disease l: Introduction

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,...

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Treacher Collins syndrome - a case report.

Magda Fraszczyk-Tousty¹, Agata Jankowska¹, Joanna Tousty¹

¹Department of Neonatal Diseases, Pomeranian Medical University, Szczecin, Poland.

Case Reports in Perinatal Medicine

|March 5, 2025

Summary

Treacher Collins syndrome (TCS) is a rare genetic disorder affecting craniofacial development. This case report details a patient with TCS, highlighting the long-term surgical interventions needed to improve quality of life.

Keywords:

Francescchetti-Zwahlen-Klein syndrome Treacher-Collins syndrome mandibulofacial dysostosis

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Area of Science:

Genetics
Craniofacial biology
Medical case reports

Background:

Treacher Collins syndrome (TCS), also known as mandibulofacial dysostosis, is an autosomal dominant disorder.
It primarily affects soft tissues and craniofacial bones, often caused by mutations in the TCOF1 gene.
TCS incidence ranges from 1/10,000 to 1/50,000 live births.

Purpose of the Study:

To present a case report of a patient diagnosed with Treacher Collins syndrome.
To describe the clinical presentation and family history of the affected individual.
To provide a concise review of the existing literature on TCS.

Main Methods:

Clinical observation and diagnosis of a neonate with TCS.
Review of medical literature pertaining to Treacher Collins syndrome.
Documentation of the patient's family history and initial clinical findings.

Main Results:

The patient presented with a complete form of Treacher Collins syndrome.
Clinical abnormalities included hypoplasia of cheek and zygomatic bones, micrognathia, deformed auricles, undeveloped auditory canals, retrognathia, cleft palate, and narrow palpebral fissures.
The patient's condition necessitates extensive, long-term reconstructive and plastic surgical procedures.

Conclusions:

Treatment for TCS is a long-term process involving multiple surgical interventions.
These procedures are essential for improving the patient's quality of life.
The case underscores the complex management required for individuals with Treacher Collins syndrome.