Cleidocranial dysostosis

Clinical History

A 20-year-old male patient complained of non-eruption of teeth and wanted replacement of missing teeth with a prosthesis.

Imaging Findings

1. Orthopantomogram showing multiple impacted teeth along with supernumerary teeth and rounded gonial angles.

2. PA Chest radiograph showing complete absence of clavicles bilaterally and bell-shaped rib-cage.

3. PA skull showing widened anterior fontanel and posterior fontanels with presence of wormian bones and large mandible.

4. Radiograph of pelvis with both hips showing delayed ossification of bones forming
symphysis pubis with diastasis of pubic symphysis, hypoplastic iliac bones, bilateral short femoral neck causing coxa vara deformity.

5. Radiograph of both hands showed a bilaterally elongated second metacarpal bone, short hypoplastic distal phalanges of the hand bilaterally and pointed terminal tufts.

Discussion

A 20-year-old male patient complained of non-eruption of teeth and wanted replacement of missing teeth with a prosthesis. The panoramic radiograph of the patient showed multiple impacted teeth along with supernumerary teeth and rounded gonial angles. On the basis of the physical examination, further radiographic investigations were carried out including CT of head and face. PA chest showed complete absence of clavicles bilaterally and bell-shaped rib-cage. PA skull showed widened anterior fontanel and posterior fontanels with presence of Wormian bones and large mandible. Radiograph of pelvis with both hips showed delayed ossification of bones forming symphysis pubis with diastasis of pubic symphysis, hypoplastic iliac bones, bilateral short femoral neck causing coxa vara deformity. CT showed multiple abnormal intra-sutural bones typically around lambdoid suture suggestive of Wormian bones. The anterior and posterior fontanels were widened and opened up. The zygomatic arches were hypoplastic. There was agenesis of frontal sinuses and bilateral decreased pneumatization of mastoid air cells.
Cleidocranial dysostosis is a rare autosomal dominant congenital defect primarily affecting bones which undergo intramembranous ossification [1, 2, 3]. This rare entity follows an autosomal dominant inheritance caused by mutations in the Cbfa1 gene also called Runx2 (Runt related transcription factor 2) located on the short arm of chromosome 6P21. The Cbfa1 is essential for osteoblast and odontoblast differentiation as well as for bone and tooth formation [4]. In 1898, Pierre Marie and Paul Sainton were the first to describe this rare anomaly [5]. Cleidocranial dysostosis is also known as Marie and Sainton disease, mutational dysostosis and cleidocranial dysplasia [6]. Cleidocranial dysostosis is a relatively uncommon disorder with a prevalence of 0.5 per 100, 000 live births [7]. The skeletal abnormalities commonly found include clavicular aplasia or hypoplasia, bell-shaped thorax, enlarged calvaria with frontal bossing and open fontanelles, Wormian bones, brachydactyly with hypoplastic distal phalanges, hypoplasia of the pelvis with widened symphysis pubis, enlargement of the frontal and occipital bones, supernumerary teeth, delayed eruption of permanent dentition and short stature [8, 9]. Shortened or absent nasal bones, paranasal sinus abnormalities, thickening of calvaria, small maxilla and delayed union of the mandibular symphysis are less common findings of cleidocranial dysostosis. [1, 10, 11] Most of the classical skeletal findings are also shown in our case.
Dental findings in cleidocranial dysostosis is characterized by prolonged retention of primary teeth [3]. All these features are also noted in our case. This patient is treated by multidisciplinary approach of prosthodontics and orthodontics.

Differential Diagnosis List

Final Diagnosis

Cleidocranial dysostosis

URL:	https://www.eurorad.org/case/12080
DOI:	10.1594/EURORAD/CASE.12080
ISSN:	1563-4086