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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

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Franceschetti syndrome.

Vikrant Kasat¹

¹Department of Oral Medicine and Radiology, Rural Dental College, Loni, Maharashtra, India.

Contemporary Clinical Dentistry

|November 18, 2011

Summary

Franceschetti syndrome, also known as Treacher Collins syndrome (TCS), is an inherited condition affecting facial development. This report details a case of TCS in an 18-year-old female patient.

Area of Science:

Genetics
Developmental Biology
Medical Case Reports

Background:

Franceschetti syndrome, commonly referred to as Treacher Collins syndrome (TCS), is an autosomal dominant genetic disorder.
It is characterized by significant variability in its clinical presentation (variable expressivity).
The condition equally affects both males and females.

Observation:

This article presents a clinical case study.
The patient is an 18-year-old female.

Findings:

The case highlights the manifestation of Treacher Collins syndrome in a young adult female.
The report implicitly discusses the diagnostic and clinical features relevant to this specific case.

Implications:

Keywords:

Hypoplasia Treacher-Collins syndrome mandible palpebral fissures zygoma

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Case reports are crucial for understanding the spectrum of rare genetic disorders like TCS.
Such detailed accounts aid in refining diagnostic criteria and management strategies.
This case contributes to the existing literature on Treacher Collins syndrome, particularly regarding its presentation in late adolescence.