Related Experiment Video
Updated: May 1, 2026

09:26
Quantification of Orofacial Phenotypes in Xenopus
Published on: November 6, 2014
9.2K
LEOPARD syndrome: maxillofacial care.
Ikenna Valentine Aboh1, Glauco Chisci, Paolo Gennaro
1From the *Department of Maxillofacial Surgery, University of Siena, Siena; †Department of Maxillofacial Surgery, "Sapienza" University of Rome, Rome; and ‡Department of Pathology, University of Siena, Siena, Italy.
The Journal of Craniofacial Surgery
|April 8, 2014
Summary
This case report details a boy with LEOPARD syndrome experiencing rare mandibular osteolytic lesions and dental eruption issues. Management involved comprehensive diagnosis and maxillofacial care for facial swelling.
Area of Science:
- Dentistry
- Genetics
- Pathology
Background:
- LEOPARD syndrome is a rare genetic disorder.
- It is characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, facial abnormalities, genitourinary anomalies, retardation of growth and development, and deafness.
Observation:
- A pediatric patient presented with bilateral facial swelling.
- The patient was diagnosed with LEOPARD syndrome.
- Unusual mandibular osteolytic lesions and an eruption disorder were noted.
Findings:
- The mandibular lesions were osteoclastic-like, indicating bone destruction.
- The eruption disorder suggests compromised dental development.
- Systemic examinations confirmed the LEOPARD syndrome diagnosis.
Implications:
- This case highlights the dental and maxillofacial manifestations of LEOPARD syndrome.
- Early diagnosis and management are crucial for affected individuals.
- Further research into the specific oral pathology of LEOPARD syndrome is warranted.
Related Concept Videos
Assessment of the Mouth
1.6K
A thorough mouth assessment, including inspection and palpation of the lips, gums, tongue, tonsils, uvula, and pharynx, is crucial in detecting potential health issues. Diseases ranging from oral cancer to systemic conditions like diabetes could be identified early through careful oral examination. This article provides a detailed guide on conducting a comprehensive mouth assessment.
Mouth Inspection
The inspection begins with visually examining the mouth for symmetry, color, and size.
Mouth Inspection
The inspection begins with visually examining the mouth for symmetry, color, and size.
1.6K
Assessment of Airway, Skin Color, and Use of Accessory Muscles
1.8K
A thorough assessment of respiratory health is paramount in clinical settings to identify and manage respiratory distress and ensure adequate oxygenation. This article elaborates on the critical aspects of respiratory evaluation, including airway assessment, skin color examination, and the observation of accessory muscle use, which are integral to effectively diagnosing and managing patients with respiratory conditions.
Introduction
The initial evaluation of a patient's respiratory system...
Introduction
The initial evaluation of a patient's respiratory system...
1.8K
Pleiotropy
31.2K
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,...
31.2K

