Frank-ter Haar syndrome--additional findings?
Taha Emre Köse1, Cemil İşler2, Ş Neslihan Şenel1
11 Oral and Maxillofacial Radiology Department, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
Dento Maxillo Facial Radiology
|November 20, 2015
Summary
Frank-ter Haar syndrome is a rare genetic disorder with known features like heart defects and developmental delays. This case highlights potential new dentomaxillofacial characteristics associated with the syndrome.
Area of Science:
- Genetics
- Rare Diseases
- Dysmorphic Syndromes
Background:
- Frank-ter Haar syndrome is an autosomal recessive genetic disorder.
- It presents with characteristic features including megalocornea, glaucoma, heart defects, and developmental delays.
- Dentomaxillofacial manifestations are not well-documented.
Observation:
- A 21-year-old male patient with diagnosed Frank-ter Haar syndrome was studied.
- The patient exhibited several features not previously documented in the literature.
Findings:
- The study focuses on the poorly documented dentomaxillofacial characteristics of Frank-ter Haar syndrome.
- New potential features associated with the syndrome were observed in the patient.
Implications:
- This case expands the known clinical spectrum of Frank-ter Haar syndrome.
- Further research is needed to confirm and understand these novel features and their genetic basis.
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