Cleidocranial dysplasia in a mother and her daughter within the scope of neurosurgery. Report of two cases.J Neurosurg. 2006 Apr; 104(4 Suppl):290-2.JN
Cleidocranial dysplasia is an autosomal-dominant disorder characterized by late closure or nonclosure of the anterior fontanelle, late ossification of cranial sutures, defective clavicle, and delayed eruption of permanent teeth. In this article, two cases of cleidocranial dysplasia involving a mother and her daughter are reported, and a case management policy is suggested. The 1-year-old daughter was macrocephalic and brachycephalic, and had midface hypoplasia and hypertelorism. Plain radiographs revealed aplasia of the clavicles. Three-dimensional computerized tomography scanning demonstrated a large anterior fontanelle, a patent posterior fontanelle, and bone defects at the pterion and asterion, together with nonfused metopic and sagittal sutures. The mother was 22 years of age. She had an open anterior fontanelle, aplastic clavicles, and unerupted permanent teeth. Although it is a rare disorder, cleidocranial dysplasia should be recognized by neurosurgeons. A protective helmet can be provided in early childhood, and craniofacial remodeling can be undertaken at a later age, when the final size and shape of the skull become apparent.