Familial Cleidocranial Dysplasia: A Diagnostic Challenge.

Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting primarily the cranium, clavicle, and dental tissues. The expression of this disorder can vary widely in severity, even within the same family. Here we present a case report of an affected mother and son with classical manifestations of the disease.

Gorlin-Goltz Syndrome: An Incidental Finding of a Rare Entity.

Gorlin-Goltz syndrome (GGS) is a rare hereditary disease characterized by multiple basal cell carcinomas, odontogenic keratocyst (OKCs) and musculoskeletal malformations. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and mutations in the human patched gene (PTCH1 gene). Here, we report a rare case of an incidental finding of GGS in an 18-year-old male patient presenting multiple OKCs, calcification of the falx cerebri, and bifid rib.