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Craniometaphyseal dysplasia: a case report
Luca Lamazza1, Antonello Messina, Ferdinando D'Ambrosio
1Department of Dentistry, Sapienza University of Rome, Rome, Italy.
Summary
Craniometaphyseal dysplasia (CMD) is a rare genetic bone disorder. This case study confirms autosomal dominant CMD in a patient initially misdiagnosed with Paget disease, highlighting the importance of genetic testing.
Area of Science:
- Genetics
- Orthopedics
- Rare Diseases
Background:
- Craniometaphyseal dysplasia (CMD) is a rare genetic bone disorder affecting craniofacial development and metaphysis remodeling.
- It presents in autosomal dominant (AD) and autosomal recessive (AR) forms, with AR typically showing more severe cranial bone sclerosis.
- Potential complications include cranial nerve compression, leading to hearing loss and facial palsy.
Observation:
- A 36-year-old male with a prior Paget disease diagnosis presented with prognathism, ocular hypertelorism, and hearing loss.
- Clinical examination revealed a class III malocclusion, nasal bossing, and a narrow palatal vault.
- Histological examination of an alveolar biopsy excluded Paget disease.
Findings:
- Molecular testing confirmed the final diagnosis of autosomal dominant CMD.
- The ANKH gene was identified as the causative gene for CMD in this patient.
- This case underscores the diagnostic challenges and the necessity of genetic confirmation.
Implications:
- Accurate diagnosis of CMD is crucial for appropriate management and genetic counseling.
- Distinguishing CMD from other bone dysplasias like Paget disease is essential for effective treatment.
- Advances in genetic testing facilitate definitive CMD diagnosis, improving patient outcomes.
