Syndrome of Hajdu-Cheney: three case reports of orofacial interest

Area of Science:

• Genetics and Human Diseases
• Connective Tissue Disorders
• Craniofacial Anomalies

Background:

• Hajdu-Cheney syndrome is a rare autosomal dominant connective tissue disorder.
• It is characterized by skeletal abnormalities like osteoporotic bones and acro-osteolysis, short stature, and distinct facial features.
• Understanding its orofacial manifestations is crucial for diagnosis and management.

Observation:

• This study examines the orofacial and dental features in three cases of Hajdu-Cheney syndrome (two sporadic, one familial).
• Common craniofacial and dental characteristics were documented.
• Specific attention was given to deviations from previously described diagnostic criteria.

Findings:

• Patients exhibited persisting deciduous teeth, which is contrary to some earlier reports.
• Problematic tooth eruption patterns were observed in the studied individuals.
• A tendency towards developing a Class III malocclusion was a notable finding.

Implications:

• The orofacial and dental findings can aid in the earlier and more accurate diagnosis of Hajdu-Cheney syndrome.
• Recognizing these specific dental anomalies, like persistent primary teeth and Class III malocclusion, is important for dental and orthodontic interventions.
• Further research into the variable expressivity of Hajdu-Cheney syndrome's orofacial features is warranted.