A full term male baby weighing 2.4 Kg was delivered by normal vaginal delivery. On examination the shoulders could be approximated in the midline (Fig. 1). The fontanelle were large and sutural diastesis was present. Radiograph of the chest showed partial absence of the clavicles, characteristic of Cleidocranial dysplasia (CCD)(Fig. 2).

Fig. 1. Shoulders approximate in midline in a case of cleidocranial dysplasia.	Fig. 2. Radiograph of chest showing partial absence of clavicles.

CCD is an autosomal-dominant bone disorder, caused by heterozygous mutations in runt related gene (RUNX2/polyomavirus enhancer binding protein 2A(PEBP2A)/core binding factor A1). The pathogenesis of CCD may be related to inability of the truncated RUNX2 protein to interact with the signal transducers of transforming growth factor B (Smad) and induce osteoblast like phenotype in myeloblasts. The disease is characterized by generalized skeletal dysplasia especially abnormal clavicles, patent sutures and fontanelles, supernumerary teeth, short stature, and a variety of other skeletal changes. Typically the clavicles can be approximated in the midline. Complete absence of the clavicles is rare and usually only the acromial end is absent. The skull is brachycephalic with bossing of frontal, parietal and occipital bones, late closure of the fontanelle and mineralization of sutures. Wormian bones are present. The mandible is prognathic as a result of hypoplasia of the maxilla and other facial bones. Skeletal defects in the hands and pelvic bones have also been described. The permanent teeth erupt late and are often abnormal with numerous supernumemary teeth. The patients may also have conductive deafness. The course is usually uncomplicated except for dislocations, especially of the shoulders, and dental anomalies that require therapy.

Archana B. Patel,
Ambarish M. Athavale,
125, Opposite Tidke Vidyalay,
katol Road, Nagpur 440 013,
Maharastra, India.
E-mail: [email protected]