Two-generation Cleidocranial Dysplasia Involving Three Individuals of a Family: A Rare Case Report

Abstract Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder characterized by multiple dental and skeletal abnormalities. While isolated case reports exist, this case is unique due to its clear familial inheritance pattern and the need for urgent surgical dental intervention in a symptomatic young adult, thereby contributing new clinical insights to the limited literature on CCD. A female patient in her early 20s presented with pain and pus discharge in the mandibular left posterior region for 3 months. Extraoral findings included short stature, frontal bossing, hypertelorism, midfacial hypoplasia, and hypoplastic clavicles. Intraoral examination revealed generalized microdontia, malalignment, multiple carious teeth, and a partially erupted mandibular left third molar with pericoronitis. A positive family history of similar skeletal features in her father and sibling raised suspicion of a syndromic diagnosis. Imaging studies showed open cranial sutures, underdeveloped maxilla, and an impacted mandibular molar with surrounding bone resorption. Differential diagnoses such as Down’s syndrome, Gardner’s syndrome, pycnodysostosis, and mandibuloacral dysplasia were ruled out, and a final diagnosis of CCD was established. The patient underwent surgical extraction of the third molar, excision of the associated follicular tissue, and socket curettage. Histopathology confirmed chronic nonspecific inflammation. Healing was uneventful with complete resolution of symptoms. The present case report underscores the importance of early diagnosis and timely dental intervention in patients with CCD. A multidisciplinary approach that includes dental, surgical, and genetic considerations is essential for improving both functional outcomes and quality of life in affected individuals.