Orofacial characteristics in a child with Hajdu-Cheney syndrome

Area of Science:

• Genetics
• Pediatrics
• Dentistry

Background:

• Hajdu-Cheney syndrome (HCS), or cranio-skeletal dysplasia, is a rare genetic disorder affecting bone metabolism.
• Key features include acro-osteolysis, generalized osteoporosis, dysmorphic facial features, short stature, aplasia of facial sinuses, and persistent cranial sutures.
• Manifestations begin at birth but become more pronounced with age, often leading to dental recognition due to craniofacial abnormalities.

Observation:

• This report details a 6-year-old girl diagnosed with HCS.
• The patient presented with unusual facial characteristics.
• Dental observations included premature exfoliation, abnormal tooth mobility, and atypical root resorption in primary teeth.

Findings:

• The case illustrates the craniofacial and dental manifestations of Hajdu-Cheney syndrome in a pediatric patient.
• Specific findings included premature loss of primary teeth, significant tooth mobility, and unusual root resorption patterns.
• These dental anomalies underscore the systemic impact of HCS on oral health.

Implications:

• Early recognition of HCS, particularly through dental examination, is crucial for timely diagnosis and management.
• Understanding the dental implications of HCS can guide pediatric dentists in managing affected children.
• This case highlights the importance of interdisciplinary collaboration in diagnosing and treating rare genetic bone disorders.