GENETIC COUNSELING, cilt.8, sa.3, ss.213-216, 1997 (SCI-Expanded)
Pyknodysostosis: hemangioma of the skull as a new finding. Pyknodysostosis is a rare sclerosing bone dysplasia syndrome with autosomal recessive inheritance. Here, we report a case of pyknodysostosis, with characteristic physical and radiological findings, but also with a hemangioma of the skull, as a non reported finding sofar.