The clinical examination of a male newborn revealed wide open cranial sutures and fontanelles.
Figure 1 and Figure 2: Frontal (1) and lateral (2) skull radiographs show broad and anomalous cranial sutures with widely patent fontanelles and absent ossification of a portion of the skull bone.
Figure 3: Anteroposterior thoraco-abdominal-pelvic radiograph** reveals hypoplastic clavicles bilaterally, absence of synostosis of the posterior arches of the cervical spine, bilateral shoulder dislocation, diastasis of the pubic symphysis and bilateral dislocation of the hips.
** It should be noted that this type of 'babygram' examination is NOT recommended for the diagnosis of a suspected skeletal dysplasia, rather a skeletal survey examination (only a single view of one upper and one lower limb need be imaged, and a single image of each extremity; the chest, lateral spine, pelvis and skull must also be evaluated) ought to be performed. Section Editor
Cleidocranial dysostosis (CCD) is a congenital condition that causes several defects in the bones formed by intramembranous ossification; primarily the clavicles, cranium and pelvis . In 1898, Marie and Sainton, described this disease for the first time . CCD is characterized by abnormalities that affect membranous and endochondral bone . These abnormalities are caused by mutations in the CBFA1 gene, resulting in the production of a transcription factor that activates osteoblastic differentiation (RUNX2) [3, 4].The locus for this dysplasia has been isolated to the short arm of chromosome 6 . Both the dominant and the recessive patterns of inheritance have been described, however, spontaneous mutation occurs in 20-40% of the cases .
CCD is a relatively rare congenital defect with a prevalence of 0.5 per 100, 000 live births . Starting from 14 weeks of gestation it is possible to make a prenatal diagnosis using ultrasound . Men and women are affected to an approximately equal extent, and the condition can appear in several successive generations . There are no racial predilections and most patients are of normal intelligence .
The clinical presentation of the individuals with CCD is pathognomonic: they usually have short stature, kyphoscoliosis, a large and brachycephalic head  with late closure of the sutures and fontanelles , small and short face, mandibular prognathism, supernumerary teeth, long and narrow neck, hypermobile shoulders , hearing loss , cone-shaped thorax with narrow upper thoracic diameter, brachydactyly, tapering fingers and short, broad thumbs .
Plain film radiography is the most important imaging modality for diagnosing CCD .The skull classically exhibits diffuse areas of rarefaction with most ossification in the frontal bones and the least in the temporal and parietal bones , broad and anomalous cranial sutures with patent fontanelles and Wormian bones, underdeveloped paranasal sinuses [4, 5] and lack of pneumatisation of the mastoid air cells .The clavicles can appear hypoplastic or aplastic on one or both sides [4, 5].The mandible and maxilla show unerupted and malpositioned supernumerary teeth [4, 5]. The pelvic radiograph can demonstrate a widened pubic symphysis, pelvic dysplasia, small iliac wings, coxa vara, very short femoral necks , congenital dislocation of hip and multiple spinal anomalies .
There are no specific treatments available for the skull, clavicular or other skeletal abnormalities associated with CCD [5, 7]. Some conventional methods are recommended when musculoskeletal problems are present . Protective headgear can be used whilst the fontanelles remain patent . Aesthetic and functional correction of dentofacial deformities are still being discussed in the literature . Genetic counselling is the most important way to manage the CCD . Usually, carriers of CCD grow well without any significant problems and have relatively normal lives .
Differential Diagnosis List
Congenital clavicular pseudarthrosis