CRANIOFACIAL ABNORMALITIES IN 52 SCHOOL-AGE AND ADULT PATIENTS WITH CLEIDOCRANIAL DYSPLASIA

The purpose of the present investigation is to describe and discuss th e craniofacial abnormalities in young and adult patients with cleidocr anial dysplasia (CCD). Skull radiographs of 52 CCD patients were exami ned. Thirty-six patients were adult, 16 were between 7 and 16 years ol d. Facial photographs were available in 30 cases, and in one adult cas e with cranial CT scans, 3-D reconstructions were carried out. High qu ality photographs of six CCD skulls were also described. The paranasal sinuses were absent or diminished in all children and most adult pati ents. An inverted pear-shape of the calvaria and an open anterior font anelle were present in more than 60% of the cases. In the cranial base an upward distorsion of the clivus, an anteverted foramen magnum, and extremely narrow choanae were frequent traits, together with small se lla and bulbous dorsum sellae. Nearly all patients and dry skulls show ed hypoplasia or absence of nasal bones. The zygomatic arches were dim inished or incomplete in all cases. Mandibular morphology was judged t o be syndrome specific with the slender, upward-backward-pointing coro noid process. We have concluded that a great part of the abnormal qual itative traits are present to a lesser degree in CCD children, indicat ing a progressive abnormal development with advancing age. From the pr esent and previous studies on CCD we have hypothesized that on top of their generalized reduction of growth potential, these patients suffer from a combination of skeletal immaturity resulting in deformations a nd a defective bone remodeling. We have acknowledged the importance of longitudinal investigations in order to ameliorate the understanding of the pathogenesis of CCD and thereby to improve total patient care. Correction of the craniofacial abnormalities may be advocated in the m ost severe cases of hypertelorism and midfrontal groove, if psychosoci al problems occur. Also, patients with major midface underdevelopment might benefit from combined orthodontic/surgical correction.