Cleidocranial dysplasia with hearing loss
A 12-year-old girl reported to our department with a complaint of missing lower teeth and an unaesthetic facial appearance with progressive loss of hearing over a period of 3 months. Patient complained that only few permanent teeth had erupted and she had difficulty in chewing and was unable to eat. Past dental history revealed extraction of upper left permanent molar by a private dentist because of gross decay. There was no relevant medical history or family history. Her general examination revealed short stature and she was well oriented with normal intelligence. Extraoral examination revealed hypertelorism (increased intercanthal distance of eyes), frontal bossing with brachycephalic skull, depressed and flattened nasal bridge, malar hypoplasia, and an underdeveloped maxilla with a prognathic mandible and concave facial profile []. Hand showed hypoplastic distal phalanges [], and brachydactyly of the fourth toe [] was seen. The thorax was narrow and cone shaped, and spinal abnormalities like mild scoliosis and kyphosis were appreciated []. On palpation, a depression over the sagittal suture with presence of metopic suture of the frontal bone was felt and the patient could approximate her shoulders in midline []. Intraoral examination revealed normal mouth opening and jaw movements. Erupted upper right permanent first molar and retained deciduous teeth were seen with high arched and narrow palate [Figure , ] with erupted right permanent first molar and retained deciduous teeth [] were seen. Panoramic radiograph revealed few impacted teeth, multiple retained deciduous teeth, and underdeveloped maxillary sinuses []. AP view of pelvis demonstrated a widened pubic symphysis and triradiate cartilage []. Skull AP and lateral views showed the presence of multiple wormian bones with open fontanelles []. Chest radiograph showed bell-shaped rib cage and hypoplastic clavicles []. Based on the clinical and radiographic findings, a diagnosis of CCD was made. She was referred to otolaryngologist for opinion and audiometry revealed conductive deafness of right side of the ear. Multidisciplinary approach with dental and medical team of doctors will aid in the treatment of this rare CCD.