Cleidocranial dysostosis: a case report with clinical illustration
Vanesa Villamil1, Ramón Ruiz Pruneda2, María Fernández Ibieta3
1Pediatric Surgery Service, Hospital HM Nens, Barcelona, Spain.
The Pan African Medical Journal
|August 9, 2021
Summary
Cleidocranial Dysplasia (CCD) is a rare genetic disorder affecting bone development. Early diagnosis in children is crucial for timely orthopedic and dental interventions, improving patient quality of life.
Area of Science:
- Genetics
- Orthopedics
- Dentistry
Background:
- Cleidocranial Dysplasia (CCD) is an autosomal dominant inherited disorder.
- Characterized by a triad of skeletal abnormalities: supernumerary teeth, clavicular hypoplasia/aplasia, and delayed cranial suture closure.
Observation:
- A 9-year-old female presented with restricted upper limb mobility and shoulder hypermobility.
- Radiographic examination revealed partial absence of clavicles and a cone-shaped thorax.
Findings:
- The patient was diagnosed with Cleidocranial Dysplasia (CCD).
- The diagnosis was confirmed through characteristic clinical and radiological findings.
Implications:
- Multidisciplinary management involving orthopedic and dental specialists is essential for CCD patients.
- Premature diagnosis facilitates appropriate treatment planning, significantly enhancing patient outcomes and quality of life.
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