Cleidocranial dysplasia

Area of Science:

• Genetics
• Orthopedics
• Pediatrics

Background:

• Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder.
• It is characterized by defective ossification, particularly affecting the clavicles and skull.
• Mutations in the RUNX2 gene (also known as CBFA1) on chromosome 6p21 are the primary cause.

Observation:

• A 4-year-old girl presented with a persistently open anterior fontanelle and narrow, sloping shoulders.
• Radiographic imaging confirmed a widely patent anterior fontanelle, supernumerary teeth, and complete absence of the clavicles.
• These clinical and radiographic findings are classic indicators of cleidocranial dysplasia.

Findings:

• The patient was diagnosed with cleidocranial dysplasia based on the observed physical and radiological features.
• The underlying genetic cause, a mutation in the RUNX2 gene, was identified as responsible for the skeletal abnormalities.
• The case highlights the typical presentation of this rare genetic disorder in childhood.

Implications:

• This case underscores the importance of recognizing the characteristic features of cleidocranial dysplasia for timely diagnosis.
• Understanding the genetic basis (RUNX2 mutations) aids in genetic counseling and potential future therapeutic strategies.
• The spontaneous closure of the anterior fontanelle by age nine suggests a variable but potentially favorable natural history for some skeletal manifestations.