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Cleidocranial dysplasia: a case report.

Gülay Karagüzel¹, Filiz Azar Aktürk, Emelgül Okur

¹Karadeniz Technical University, School of Medicine, Department of Pediatric Endocrinology, Trabzon, Türkiye. gulaykg@yahoo.com

Journal of Clinical Research in Pediatric Endocrinology

|January 29, 2011

Summary

Cleidocranial dysplasia (CCD) is a rare genetic skeletal disorder caused by RUNX2 gene mutations. This case highlights key clinical signs like delayed fontanelle closure and clavicle hypoplasia in a young boy.

Keywords:

Cleidocranial dysplasia aplasia of clavicle unclosed fontanelle

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Area of Science:

Genetics
Skeletal Dysplasias
Molecular Biology

Background:

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder.
It results from mutations in the RUNX2 gene, encoding the transcription factor CBFA1.
CCD affects skeletal development, including clavicles, skull, and teeth.

Observation:

A 3.5-year-old boy presented with a persistently open anterior fontanelle.
Clinical examination revealed characteristic features of cleidocranial dysplasia.
Key findings included hypoplastic clavicles and delayed cranial suture closure.

Findings:

The patient exhibited hypoplasia of the clavicular bones, a hallmark of CCD.
Delayed closure of the anterior fontanelle and metopic sutures contributed to frontal bossing.
Dental abnormalities and short stature are also common in this condition.

Implications:

Early clinical recognition of CCD is crucial for timely diagnosis and management.
Understanding the genetic basis (RUNX2 mutations) aids in genetic counseling.
This case underscores the importance of thorough clinical assessment in diagnosing skeletal dysplasias.