Year: 2025
Type: article
Study design: Case Report
Abstract: Cleidocranial dysplasia (CCD) is an autosomal dominant disorder caused by a mutation in Runt-related transcription factor 2 (RUNX2), primarily affecting bones undergoing intramembranous ossification, characterized by generalized dysplasia of bones and teeth. Affected individuals exhibit short stature, partial or complete absence of clavicles, delayed fontanel closure, open skull sutures, multiple wormian bones. Dental issues include retention of deciduous teeth, delayed eruption of permanent teeth, supernumerary teeth, absence of cellular cementum. Diagnosis is based on clinical & radiographic findings. Early diagnosis enhances treatment and quality of life. This case series presents spectrum of clinical and radiographic findings of four adult CCD patients with varying dysplasia manifestations.
Source: PubMed
Authors: Fakir Mohan Debta, Kunal Agarwal, Basudha Bera, Romali Panda, Sebati Murmu
Institution: Sriram Chandra Bhanja Medical College Hospital
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4416554396
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