Cleidocranial dysplasia--a late diagnosis.

Area of Science:

• Genetics and Developmental Biology
• Orthodontics and Dental Medicine
• Skeletal Dysplasias

Background:

• Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder.
• Characterized by hypoplastic or aplastic clavicles, delayed closure of fontanelles, and dental anomalies.
• Diagnosis is typically made in childhood due to characteristic physical features.

Observation:

• This report details a case of cleidocranial dysplasia diagnosed late in adulthood.
• The patient presented with a significantly compromised dental state, including delayed eruption of permanent teeth.
• The condition was initially misdiagnosed, highlighting diagnostic challenges.

Findings:

• Late diagnosis of cleidocranial dysplasia can lead to severe dental complications.
• Characteristic features of CCD include clavicular hypoplasia, delayed cranial ossification, and supernumerary or unerupted teeth.
• Differential diagnosis is important to distinguish CCD from other skeletal and dental anomalies.

Implications:

• Emphasizes the importance of early diagnosis of cleidocranial dysplasia for timely intervention.
• Highlights the need for comprehensive dental evaluation in suspected cases of CCD.
• Underscores the necessity of considering CCD in the differential diagnosis of delayed tooth eruption and skeletal abnormalities.