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Cleidocranial dysplasia

B Zabeen1, F Mohsin, A Taher

  • 1Department of Paediatrics, Bangladesh Institute of Research and Rehabilitation on Diabetes, Endocrine and Metabolic Disorders (BIRDEM), 122, Kazi Nazrul Islam Avenue, Shahabag, Dhaka-1000; Bangladesh. bzabeen@hotmail.com

Mymensingh Medical Journal : MMJ
|February 21, 2008
PubMed

Insights

Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone development, particularly the skull and clavicles. This case report details a 13-year-old boy diagnosed with CCD, highlighting key clinical and radiological features.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder affecting intramembranous and endochondral ossification.
  • Characterized by skeletal defects, particularly in the cranium and clavicles, with an incidence of 1 in a million.
  • Over 500 cases reported globally.

Observation:

  • A 13-year-old boy presented with growth delay, delayed tooth shedding, and eruption issues.
  • Clinical examination revealed elongated facies, midfacial hypoplasia, hypertelorism, and a wide anterior fontanelle.
  • Physical findings included short clavicles, allowing easy shoulder apposition.

Findings:

  • Radiological assessment confirmed widened sutures and fontanelles, intact deciduous teeth, and impacted secondary teeth.
  • Hypoplastic clavicles were noted, consistent with Cleidocranial dysplasia.
  • Diagnosis was confirmed through clinical presentation and investigations.

Implications:

  • This case underscores the importance of recognizing characteristic clinical and radiological signs of Cleidocranial dysplasia in pediatric patients.
  • Early diagnosis and management are crucial for addressing growth and dental anomalies associated with CCD.
  • Further research into the genetic basis and long-term outcomes of CCD is warranted.

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